Da Costa syndrome, also known as soldier's heart, effort syndrome, or neurocirculatory asthenia, is a syndrome characterized by cardiovascular, respiratory, and neurological symptoms without any identifiable organic heart disease. It's considered a form of somatic symptom disorder, where psychological distress manifests as physical symptoms. While historically associated with soldiers experiencing stress during wartime, it can affect anyone.
Dandy-Walker syndrome (DWS) is a rare congenital (present at birth) brain malformation involving the cerebellum and the fluid-filled spaces around it. The key features include an enlarged posterior fossa (the space at the back of the skull), a cystic enlargement of the fourth ventricle (one of the brain's fluid-filled cavities), and partial or complete absence of the cerebellar vermis (the part of the cerebellum that connects the two hemispheres). The severity of DWS can vary, leading to a range of developmental and neurological issues.
Darier's disease (also known as Darier-White disease or keratosis follicularis) is a rare genetic skin disorder affecting the skin, nails, and mucous membranes. It's characterized by persistent, greasy, wart-like papules and plaques, primarily in seborrheic areas (scalp, face, chest, back). The condition is chronic and typically begins in childhood or adolescence.
Davidenkov's syndrome, also known as hereditary flexural dystonia with amyotrophy, is a rare neurological disorder characterized by a combination of dystonia (involuntary muscle contractions leading to twisting and repetitive movements or abnormal postures) primarily affecting the limbs, and amyotrophy (muscle wasting), particularly in the hands and feet. It is typically inherited in an X-linked recessive pattern, meaning it primarily affects males.
De Quervain tenosynovitis is a painful condition affecting the tendons on the thumb side of your wrist. It causes pain and tenderness along the thumb side of the wrist, especially when forming a fist, grasping, or turning the wrist. It's caused by irritation or swelling of the tendons that control thumb movement.
De Sanctis-Cacchione syndrome (DSCS) is a rare, autosomal recessive genetic disorder characterized by a combination of xeroderma pigmentosum (XP) and neurological abnormalities. XP is a condition causing extreme sensitivity to ultraviolet (UV) radiation, leading to a high risk of skin cancers and eye problems. The neurological problems associated with DSCS can include intellectual disability, microcephaly, progressive neurological degeneration, and sensorineural deafness. The severity of symptoms varies significantly among individuals.
De Morsier syndrome, also known as septo-optic dysplasia (SOD), is a rare congenital disorder characterized by a combination of optic nerve hypoplasia (underdevelopment of the optic nerves), pituitary hormone abnormalities, and absence of the septum pellucidum (a membrane in the brain). The severity of the syndrome varies greatly among affected individuals.
Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3 (CMT3), is a rare, severe, inherited neurological disorder that affects the peripheral nerves. It is characterized by delayed motor development in infancy, progressive muscle weakness, sensory loss, and skeletal deformities. DSD is a demyelinating neuropathy, meaning that the myelin sheath (the protective covering around nerve fibers) is damaged, leading to impaired nerve signal transmission.
Dejerine-Roussy syndrome, also known as thalamic pain syndrome, is a neurological disorder that occurs after damage to the thalamus, a key relay station for sensory information in the brain. This damage often results from stroke, but can also be caused by other injuries or conditions affecting the thalamus. The syndrome is characterized by chronic, debilitating pain, often described as burning, aching, or shooting, and can be accompanied by unusual sensory experiences.
Del Castillo syndrome, also known as Sertoli-Cell-Only Syndrome (SCOS), is a condition characterized by the absence of germ cells (cells that develop into sperm) in the seminiferous tubules of the testes. Sertoli cells, which support sperm development, are the only cells present. This results in infertility.
Easy bruising
Prolonged bleeding after cuts or surgery
Nosebleeds (epistaxis)
Heavy menstrual periods (menorrhagia) in females
Bleeding from gums
Postpartum hemorrhage (bleeding after childbirth)
Less frequently, bleeding into joints or muscles. Severity varies among affected individuals.
Dementia is not a single disease, but rather a general term for a decline in mental ability severe enough to interfere with daily life. It encompasses a group of symptoms affecting memory, thinking, and social abilities. Alzheimer's disease is the most common cause of dementia.
Dementia with Lewy bodies (DLB) is a type of dementia characterized by abnormal deposits of alpha-synuclein protein, called Lewy bodies, in the brain. These deposits disrupt the brain's normal function, leading to a decline in thinking, movement, behavior, and mood. DLB is progressive, meaning the symptoms worsen over time. It shares similarities with both Alzheimer's disease and Parkinson's disease, making diagnosis challenging.
Symptoms of demyelinating diseases are varied and depend on which nerves are affected. Common symptoms include:
Numbness or weakness in limbs
Vision problems (e.g., double vision, blurred vision, optic neuritis)
Muscle spasms, stiffness, or weakness
Difficulties with coordination and balance
Speech problems (e.g., slurred speech)
Fatigue
Dizziness
Bowel and bladder dysfunction
Cognitive difficulties (e.g., memory problems, difficulty concentrating)
Pain
Tremors
Dengue fever is a mosquito-borne viral infection that causes flu-like illness. It is prevalent in tropical and subtropical areas. While most cases are mild, dengue fever can sometimes develop into a more severe form called severe dengue (dengue hemorrhagic fever), which can be life-threatening.
Dental fluorosis is a cosmetic condition that affects the enamel of teeth, caused by excessive fluoride intake during enamel formation. It appears as faint white lines or streaks in mild cases, and in more severe cases, can cause brown staining, pitting, and rough enamel. The condition does not affect the health or function of the teeth.
Dentalgia, commonly known as toothache, is pain in or around a tooth. It can range from mild discomfort to severe, throbbing pain. It is usually a sign of a dental problem, such as tooth decay, gum disease, or a cracked tooth.
Dental caries, commonly known as tooth decay or cavities, is a breakdown of teeth due to acids made by bacteria. It is a chronic disease affecting individuals of all ages and is considered one of the most common health problems worldwide. If left untreated, dental caries can lead to pain, infection, difficulty eating, and reduced quality of life.
Depression is a common and serious mood disorder that negatively affects how you feel, the way you think, and how you act. It causes feelings of sadness and/or a loss of interest in activities you once enjoyed. It can lead to a variety of emotional and physical problems and can decrease a person's ability to function at work and at home. It is different from the occasional sadness that people experience as a normal part of life.
Dercum's disease, also known as adiposis dolorosa, is a rare disorder characterized by multiple, painful lipomas (fatty tumors) under the skin. These lipomas are often accompanied by pain, fatigue, weakness, and psychological disturbances. The condition primarily affects women, especially after menopause, but can occur in men as well. There is no known cure for Dercum's disease, and treatment focuses on managing pain and other symptoms.
Dermatomyositis is a rare inflammatory disease characterized by muscle weakness and a distinctive skin rash. It is one of a group of conditions known as inflammatory myopathies. The disease can affect adults and children. In dermatomyositis, the small blood vessels in muscles and skin are damaged.
Dermatophytosis, commonly known as ringworm, is a fungal infection of the skin, hair, and nails. Despite its name, it is not caused by worms. It's caused by a group of fungi called dermatophytes. The infection is characterized by itchy, scaly, ring-shaped rashes, although the appearance can vary depending on the location and severity of the infection.
Dermatitis is a general term for inflammation of the skin. It can manifest in many forms, involving itchy, dry, and inflamed skin. It's a common condition that is not contagious but can be chronic and recurring. Various types exist, including atopic dermatitis (eczema), contact dermatitis, seborrheic dermatitis, and others, each with specific triggers and characteristics.
A dermoid cyst is a benign (non-cancerous) growth that contains skin structures like hair follicles, sweat glands, and sebaceous (oil) glands. They typically develop during fetal development when skin cells get trapped. They can occur anywhere on the body but are most commonly found on the face, scalp, or inside the body like in the ovaries.
Dermatitis herpetiformis (DH) is a chronic autoimmune blistering skin condition strongly associated with celiac disease. It's characterized by intensely itchy papules and vesicles (small blisters) that typically appear symmetrically on the elbows, knees, buttocks, and scalp. The underlying cause is a reaction to gluten, a protein found in wheat, barley, and rye.
Desmoid tumors, also known as aggressive fibromatosis, are rare, benign (non-cancerous) tumors that arise from fibrous connective tissue. They can occur anywhere in the body, but are most common in the abdomen, arms, and legs. While not cancerous in the sense that they don't metastasize (spread to distant sites), they can be locally aggressive, infiltrating surrounding tissues, and causing pain, swelling, and functional limitations. They do not spread to other parts of the body like cancer.
Symptoms of developmental delay vary widely depending on the specific area(s) affected. Some examples include:
Motor Skills: Difficulty with crawling, walking, grasping objects, or fine motor tasks like drawing.
Language: Delayed speech, difficulty understanding language, limited vocabulary, or trouble forming sentences.
Cognitive: Difficulty learning new things, problem-solving, or remembering information.
Social/Emotional: Difficulty interacting with others, showing emotions, or understanding social cues.
Adaptive: Difficulty with self-care tasks like dressing, feeding, or toileting.
Global Developmental Delay: Significant delays in two or more developmental areas.
Devic's disease, now more commonly known as Neuromyelitis Optica Spectrum Disorder (NMOSD), is a rare autoimmune disorder that primarily affects the optic nerves and spinal cord. It's characterized by inflammation and demyelination (damage to the protective covering of nerve fibers) in these areas. NMOSD can cause vision loss, muscle weakness, paralysis, sensory problems, and bladder/bowel dysfunction. Unlike multiple sclerosis (MS), which it was initially confused with, NMOSD is typically associated with specific antibodies, most commonly against aquaporin-4 (AQP4).
Diabetes insipidus (DI) is a rare condition in which the body is unable to regulate fluid balance. This leads to excessive thirst (polydipsia) and the excretion of large amounts of dilute urine (polyuria). It's different from diabetes mellitus (the common type of diabetes related to blood sugar), although they share the name "diabetes." DI is caused by problems with the hormone vasopressin (also called antidiuretic hormone or ADH), which helps the kidneys control the amount of water excreted in urine. There are different types of DI, each with its own underlying cause.
Diabetes mellitus, commonly known as diabetes, is a chronic metabolic disorder characterized by elevated blood sugar (glucose) levels. This occurs when the body either doesn't produce enough insulin (type 1 diabetes) or can't effectively use the insulin it produces (type 2 diabetes), or both. Insulin is a hormone that regulates blood sugar, allowing it to enter cells for energy. Uncontrolled diabetes can lead to serious complications affecting various organs and systems in the body.
Diabetic ketoacidosis (DKA) is a serious complication of diabetes that occurs when the body produces high levels of blood acids called ketones. It develops when the body doesn't have enough insulin to allow blood sugar (glucose) into your cells for use as energy. Instead, your liver breaks down fat for fuel, producing ketones. Excess ketones build up in the blood and urine, becoming dangerous. DKA requires prompt medical treatment.
Diabetic nephropathy is a kidney disease that occurs in people with diabetes. It's a progressive complication resulting from long-term high blood sugar levels. Over time, elevated glucose damages the nephrons (filtering units) in the kidneys, impairing their ability to filter waste and excess fluid from the blood. This can lead to kidney failure.
Diabetic retinopathy is an eye disease that occurs as a complication of diabetes. It's caused by damage to the blood vessels of the retina, the light-sensitive tissue at the back of the eye. Over time, high blood sugar levels from diabetes can weaken and block these tiny blood vessels, leading to vision loss and potentially blindness if left untreated.
A diaphragmatic hernia is a birth defect in which there is an abnormal opening in the diaphragm, the muscle that separates the chest and abdominal cavities. This opening allows abdominal organs (such as the stomach, intestines, liver, and spleen) to move into the chest cavity, interfering with lung development. This condition is primarily found in newborns and can be life-threatening. Congenital Diaphragmatic Hernia (CDH) is the most common type.
Frequent loose, watery stools
Abdominal cramps and pain
Urgent need to have a bowel movement
Nausea
Vomiting
Fever
Dehydration (signs include decreased urination, dry mouth, dizziness)
Diastematomyelia is a rare congenital birth defect in which the spinal cord is split into two hemicords, each contained within its own dural sac. This split is usually longitudinal and occurs most commonly in the lumbar region of the spine. It can be associated with bony or cartilaginous spurs arising from the vertebral body and passing through the spinal cord. The condition can lead to neurological deficits due to tethering of the spinal cord.
DiGeorge syndrome (DGS), also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a missing small piece of chromosome 22. This deletion leads to the improper development of several body systems. It's characterized by a wide range of symptoms and severity, affecting the heart, immune system, parathyroid glands (which regulate calcium levels), and facial features. It can also cause developmental delays, learning disabilities, and behavioral issues.
Digital clubbing is a physical sign characterized by bulbous enlargement of the ends of the fingers or toes. It's typically a sign of an underlying medical condition, often affecting the lungs or heart. The angle where the nail plate emerges from the nail bed becomes increased, and the nail bed itself feels spongy.
1. Summary about disease: Dilated cardiomyopathy (DCM) is a condition in which the heart's ability to pump blood is decreased because the heart's main pumping chamber, the left ventricle, is enlarged and weakened. This enlargement causes the heart muscle to stretch and thin, making it harder for the heart to contract effectively. As a result, blood flow to vital organs is reduced, and fluid can build up in the lungs, abdomen, and legs. DCM can lead to heart failure, irregular heartbeats (arrhythmias), blood clots, and sudden death.
Diphtheria is a serious bacterial infection caused by
Corynebacterium diphtheriae
. It primarily affects the mucous membranes of the nose and throat. Diphtheria is characterized by a thick, gray or white membrane that forms in the throat, making it difficult to breathe and swallow. It can also damage the heart, kidneys, and nerves. While once a common childhood disease, diphtheria is now rare in countries with widespread vaccination programs.
Diplegia, often referred to as spastic diplegia, is a form of cerebral palsy (CP) that primarily affects the lower limbs. It is characterized by increased muscle tone (spasticity) in the legs, making movement difficult. While the legs are most affected, the arms might also be mildly impacted. The severity of diplegia can vary significantly from person to person.
Eye pain
Headache
Nausea
Dizziness
Weakness in the eye muscles
Drooping eyelid
Misalignment of the eyes
Sensitivity to light
Discoid lupus erythematosus (DLE) is a chronic autoimmune skin condition. It is a type of lupus that primarily affects the skin, causing inflammation and scarring. DLE is characterized by distinct, raised, scaly, disc-shaped lesions, most commonly on the face, scalp, and ears. It can lead to permanent skin damage and changes in pigmentation. While DLE primarily affects the skin, a small percentage of individuals may develop systemic lupus erythematosus (SLE).
Diskitis, also spelled discitis, is an inflammation of the intervertebral disc space, the area between the vertebrae in the spine. It is most commonly seen in children, but can also occur in adults. It is often, but not always, caused by an infection.
Intense pain at the joint
Visible deformity of the joint
Swelling and bruising around the joint
Inability to move the joint
Numbness or tingling near the joint (due to nerve compression)
Weakness near the joint
Locking of the joint
Disseminated intravascular coagulation (DIC) is a serious condition characterized by abnormal activation of the coagulation system, leading to the formation of small blood clots inside blood vessels throughout the body. This widespread clotting consumes platelets and clotting factors, eventually leading to an inability to form clots appropriately, which in turn results in severe bleeding. DIC is always secondary to another underlying condition.
1. Summary about disease: Distal myopathies are a group of rare, inherited muscle disorders that primarily affect the muscles farthest from the center of the body (distal muscles), such as those in the hands, feet, lower legs, and forearms. They are characterized by progressive muscle weakness and wasting (atrophy). The age of onset, specific muscles affected, and rate of progression can vary significantly depending on the specific type of distal myopathy.
Presence of two or more distinct identities or personality states: Each with its own relatively enduring pattern of perceiving, relating to, and thinking about the environment and self.
Recurrent gaps in the recall of everyday events, important personal information, and/or traumatic events that are inconsistent with ordinary forgetting. These memory gaps can include:
Lapses in memory about past events.
Finding oneself in unfamiliar places with no memory of how one got there.
Discovering items among one's possessions that one does not recognize.
Significant distress or impairment in social, occupational, or other important areas of functioning.
Other common symptoms: Depression, anxiety, suicidal ideation, self-harm, substance abuse, eating disorders, panic attacks, phobias, psychotic-like symptoms, and sleep disorders.
Depersonalization: Feeling detached from one's body or mental processes.
Derealization: Feeling that the external world is unreal or distorted.
Dystonia is a neurological movement disorder characterized by sustained or intermittent muscle contractions causing repetitive movements, abnormal postures, or both. These movements are often twisting and may be tremulous. Dystonia can affect a single muscle, a group of muscles, or the entire body. The severity of dystonia varies greatly among individuals. It can range from mild, barely noticeable symptoms to severe, disabling contractions. It is not typically life-threatening, but can significantly impact quality of life.
Disulfiduria refers to the presence of excessive disulfide compounds, particularly cystine, in the urine. It is often indicative of underlying metabolic disorders that affect the processing of sulfur-containing amino acids. While disulfiduria itself is not a disease, it is a symptom or sign of an underlying condition that needs to be investigated and treated.
Diverticulitis is a condition that occurs when small pouches (diverticula) form in the wall of the colon. These pouches are common, especially after age 40, and their presence is called diverticulosis. When one or more of these pouches become inflamed or infected, the condition is called diverticulitis. This can lead to abdominal pain, fever, nausea, and changes in bowel habits.
Diverticulosis is a condition in which small pouches (diverticula) develop in the lining of the colon (large intestine). These pouches are usually not harmful and often cause no symptoms. The presence of these pouches is called diverticulosis. When one or more of these pouches become inflamed or infected, the condition is called diverticulitis.
Symptoms of dizziness can vary but often include:
Lightheadedness
A sense of unsteadiness
Loss of balance
Feeling faint
Vertigo (a spinning sensation)
Blurred vision
Nausea or vomiting
Confusion
Feeling of floating or swimming
Dominant Nocturnal Frontal Lobe Epilepsy (DNFLE) is a rare genetic epilepsy syndrome characterized by brief, often bizarre motor seizures that occur predominantly during sleep. It's caused by mutations in genes that affect neuronal nicotinic acetylcholine receptors. The seizures typically involve hyperkinetic movements, vocalizations, and autonomic changes. While it's a form of epilepsy, the seizures are often brief and can be mistaken for sleep disturbances. DNFLE is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the condition.
Donath-Landsteiner Hemolytic Anemia (DLHA) is a rare autoimmune disease characterized by the destruction of red blood cells (hemolysis) due to a specific antibody called the Donath-Landsteiner antibody. This antibody binds to red blood cells at cold temperatures (usually below body temperature) and causes them to be destroyed when the blood warms up again. DLHA can be acute (sudden onset and short duration), often following a viral infection, or chronic (long-lasting).
Flattened facial features, especially the bridge of the nose
Small head
Short neck
Protruding tongue
Upward slanting eyes (palpebral fissures)
Unusually shaped ears
Poor muscle tone
Broad, short hands with a single crease in the palm
Relatively short fingers and small hands and feet
Excessive flexibility
Brushfield spots (small white spots on the iris of the eye)
Short height
Developmental delays and intellectual disabilities are also characteristic.
Dracunculiasis, also known as Guinea worm disease, is a parasitic infection caused by the nematode roundworm
Dracunculus medinensis
. It is contracted by drinking water contaminated with copepods (small crustaceans) that carry the larvae of the Guinea worm. After ingestion, the larvae mature and migrate through the body. After about a year, the mature female worm migrates to the skin surface, typically on the lower limbs, forming a blister. When the blister is immersed in water, the female worm releases larvae, continuing the cycle of infection. The disease is extremely painful and debilitating.
Dressler's syndrome, also known as post-myocardial infarction syndrome, is a type of pericarditis (inflammation of the sac surrounding the heart) that occurs after damage to the heart tissue or the pericardium. This damage can be due to a heart attack (myocardial infarction), heart surgery, injury, or certain autoimmune conditions. It is believed to be an immune system response to the damaged heart tissue.
Drug-induced hepatitis is liver inflammation caused by certain medications, herbal remedies, or dietary supplements. It can range from mild liver dysfunction to severe liver failure. The liver processes medications, and some substances can directly damage liver cells or trigger an immune response that attacks the liver.
Drug-induced lupus (DIL) is an autoimmune condition similar to systemic lupus erythematosus (SLE), but it's triggered by certain medications. When the offending drug is stopped, the symptoms usually resolve.
Dry eye syndrome (DES), also known as keratoconjunctivitis sicca (KCS), is a common condition that occurs when the eyes don't produce enough tears or the tears evaporate too quickly. This leads to discomfort, visual disturbances, and potential damage to the eye surface. It can significantly impact quality of life.
1. Summary about disease: Dubin-Johnson syndrome (DJS) is a rare, inherited liver disorder characterized by chronic, mild jaundice (yellowing of the skin and eyes). It is caused by a defect in the liver's ability to excrete bilirubin, a yellow pigment produced during the normal breakdown of red blood cells. This leads to a buildup of bilirubin in the liver cells, giving them a dark color, and its subsequent spillover into the bloodstream.
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to alterations or absence of the protein dystrophin. It primarily affects males, with symptoms usually appearing in early childhood. DMD leads to significant disability and a shortened lifespan.
Dumping syndrome is a condition that occurs when food, especially sugar, moves too quickly from your stomach to your small intestine. It's most often a complication of surgery to remove all or part of your stomach or bypass your stomach to help you lose weight. This rapid emptying can lead to a variety of uncomfortable symptoms, often related to digestion and blood sugar levels.
Dupuytren's contracture is a condition that affects the palmar fascia, a layer of tissue under the skin of the palm. It causes the fascia to thicken and shorten, leading to the formation of nodules (small lumps) and cords (thickened bands). These cords can gradually pull the fingers (most commonly the ring and little fingers) into a bent position towards the palm, restricting their movement.
Adenosine deaminase deficiency (ADA-SCID) is a rare, inherited metabolic disorder that severely compromises the immune system. It is a type of severe combined immunodeficiency (SCID). ADA is an enzyme crucial for purine metabolism. A deficiency in ADA leads to a buildup of toxic metabolites, primarily deoxyadenosine, within cells, especially lymphocytes (white blood cells). These metabolites damage and destroy lymphocytes, rendering the individual highly susceptible to infections.
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, progressive neurodegenerative disorder characterized by a combination of neurological and psychiatric symptoms. It primarily affects the cerebellum, dentate nucleus, red nucleus, pallidum, and subthalamic nucleus of the brain. It is caused by an expansion of a CAG repeat sequence in the
ATN1
gene. The severity and age of onset can vary widely, even within the same family.
Disseminated superficial actinic porokeratosis (DSAP) is a common skin condition characterized by small, dry, scaly, slightly elevated lesions, typically 2-5 mm in diameter, with a characteristic fine, thread-like ridge or border (the cornoid lamella). It's primarily a cosmetic concern and usually appears in sun-exposed areas, particularly the arms and legs. It's generally considered a chronic condition.
Limited or absent outward movement (abduction) of one or both eyes.
Limited or absent inward movement (adduction) of one or both eyes.
Narrowing of the eye socket (palpebral fissure) when the eye moves inward.
Head turning to compensate for limited eye movement.
Abnormal head position.
Upward or downward deviation of the eye when looking straight ahead.
Double vision (diplopia), though it's usually suppressed.
Diffuse cutaneous systemic sclerosis (dcSSc), also known as diffuse scleroderma, is a rare autoimmune disease characterized by widespread thickening and hardening of the skin (scleroderma), along with internal organ involvement. The "diffuse" refers to the extent of skin involvement, affecting larger areas of the body, including the trunk, upper arms, and thighs. It progresses more rapidly than limited cutaneous systemic sclerosis and has a higher risk of internal organ complications.
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare, inherited metabolic disorder that affects the brain and muscles. It is caused by a lack of the enzyme GAMT, which is essential for the synthesis of creatine. Creatine plays a critical role in energy production, especially in the brain and muscles. A deficiency leads to a buildup of guanidinoacetate (GAA) and a shortage of creatine in the body.
Diffuse panbronchiolitis (DPB) is a chronic, progressive inflammatory lung disease primarily affecting the respiratory bronchioles. It's characterized by inflammation and thickening of the walls of these small airways, leading to airflow obstruction and increased susceptibility to infections. It is more prevalent in individuals of East Asian descent, particularly in Japan. Without treatment, DPB can lead to significant morbidity and mortality, including bronchiectasis and respiratory failure.
17-alpha-hydroxylase deficiency is a rare genetic disorder affecting the adrenal glands and gonads. It disrupts the production of several crucial steroid hormones, including cortisol and sex hormones (androgens and estrogens). This leads to a buildup of mineralocorticoids (like aldosterone) and a deficiency in sex hormones and cortisol. There are two forms of the condition, classic and non-classic.
Dopamine-responsive dystonia (DRD), also known as Segawa disease, is a rare, inherited neurological movement disorder characterized by dystonia (sustained muscle contractions causing twisting and repetitive movements or abnormal postures) that dramatically improves with low doses of levodopa (L-DOPA), a precursor to dopamine. It often presents in childhood or adolescence with gait abnormalities. DRD typically has a diurnal variation, meaning symptoms are usually milder in the morning and worsen throughout the day.
Xanthine oxidase deficiency is a rare genetic disorder characterized by a deficiency in the enzyme xanthine oxidase. This enzyme is crucial for breaking down purines, which are naturally occurring substances in the body and are also found in many foods. When xanthine oxidase is deficient, xanthine and hypoxanthine accumulate in the blood and urine, which can lead to various health problems, primarily affecting the kidneys and muscles. There are two main types: Type I (severe) and Type II (milder), depending on the specific genetic defect and the residual enzyme activity.
Dyskeratosis congenita (DC) is a rare, progressive genetic disorder that primarily affects the bone marrow, skin, and nails. It's characterized by abnormal skin pigmentation, nail dystrophy (abnormal nails), and leukoplakia (white patches in the mouth). A major complication is bone marrow failure, leading to decreased production of blood cells. DC also increases the risk of certain cancers, especially leukemia and squamous cell carcinoma.
Deficiency of uridine monophosphate synthase (UMPS) is a rare autosomal recessive metabolic disorder affecting pyrimidine synthesis. UMPS is a bifunctional enzyme that catalyzes the last two steps in the de novo synthesis of pyrimidine nucleotides. This deficiency leads to an accumulation of orotic acid, causing orotic aciduria. The classic presentation includes megaloblastic anemia refractory to vitamin B12 and folic acid, and often orotic crystalluria. Severe neurological abnormalities can also occur.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency is a metabolic disorder where the body cannot properly break down certain proteins and fats. This leads to a buildup of methylmalonic acid and other harmful substances in the blood and urine, affecting organs and tissues. It is classified as a type of organic acidemia.
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are genetic metabolic disorders resulting from a deficiency in the enzyme ferrochelatase (FECH). This deficiency leads to the accumulation of protoporphyrin in red blood cells, plasma, and tissues, primarily causing photosensitivity (painful reactions to sunlight). While often grouped together due to similar symptoms, EPP is usually inherited in an autosomal recessive manner, while XLP is X-linked. The major manifestation is acute, non-blistering photosensitivity appearing in early childhood. Chronic liver disease can occur in a minority of patients.
Glutathione synthetase deficiency (GSS deficiency) is a rare, inherited metabolic disorder affecting the body's ability to produce glutathione, a crucial antioxidant involved in various cellular processes, including detoxification, immune function, and amino acid transport. The severity of the deficiency can vary, ranging from mild forms with few symptoms to severe forms that can be life-threatening.
Carnitine palmitoyltransferase II (CPT II) deficiency is a genetic metabolic disorder that prevents the body from using certain fats for energy, particularly during periods of fasting or prolonged exercise. It affects the CPT II enzyme, which is essential for transporting fatty acids into the mitochondria (the cell's energy-producing compartments) for beta-oxidation. There are three main forms: a severe infantile form, a less severe myopathic form, and a rare neonatal form. The myopathic form is the most common.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency) is an inherited metabolic disorder that prevents the body from effectively breaking down certain fats called long-chain fatty acids. This breakdown is crucial for energy production, particularly during periods of fasting or illness. When LCHAD is deficient, these fats can accumulate to toxic levels, causing serious health problems.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from breaking down certain fats (medium-chain fatty acids) into energy, particularly during fasting or illness. This can lead to energy shortages and a buildup of harmful substances in the body.
Propionyl-CoA carboxylase (PCC) deficiency is a rare inherited metabolic disorder. It is caused by a defect in the enzyme propionyl-CoA carboxylase, which is essential for the breakdown of certain amino acids, odd-chain fatty acids, and cholesterol. Without sufficient functional PCC enzyme, these substances build up in the body, leading to various health problems, primarily affecting newborns and infants. It falls under the umbrella of organic acidemias.
Pyruvate dehydrogenase complex deficiency (PDCD) is a metabolic disorder that prevents the body from properly converting carbohydrates into energy. This occurs due to a defect in the pyruvate dehydrogenase complex (PDC), a group of enzymes crucial for linking glycolysis to the citric acid cycle (Krebs cycle). Without sufficient PDC function, pyruvate, a product of glucose breakdown, cannot be efficiently converted into acetyl-CoA, a vital molecule for energy production. This leads to a buildup of pyruvate, which is then converted to lactic acid, causing lactic acidosis. The brain and nervous system are particularly vulnerable due to their high energy demands.
3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is a rare inherited metabolic disorder that prevents the body from properly breaking down leucine, certain fatty acids, and ketone bodies. This can lead to a buildup of toxic substances in the blood and urine, particularly during periods of fasting or illness. These toxic levels can damage the brain and other organs.
Biotinidase deficiency (BTD) is an inherited metabolic disorder in which the enzyme biotinidase, responsible for recycling biotin (vitamin B7), is deficient or absent. This deficiency prevents the body from properly utilizing biotin, leading to various health problems if left untreated. BTD can be profound (complete absence of enzyme activity) or partial (reduced enzyme activity). Early diagnosis and treatment with biotin supplementation are crucial to prevent or reverse the symptoms.
Galactose-1-phosphate uridyltransferase (GALT) deficiency, also known as classic galactosemia, is an inherited metabolic disorder that prevents the body from properly processing galactose, a simple sugar found in milk, dairy products, and some fruits and vegetables. This deficiency is caused by mutations in the GALT gene, leading to a buildup of galactose and galactose-1-phosphate in the body, which can damage the liver, brain, kidneys, and eyes. Early diagnosis and dietary management are crucial to prevent severe complications.
Galactokinase deficiency (GALK deficiency) is a rare, inherited metabolic disorder characterized by a deficiency of the enzyme galactokinase. This enzyme is necessary for the proper metabolism of galactose, a sugar found in milk and other foods. The deficiency leads to an accumulation of galactose and galactitol in the blood and tissues. The primary clinical manifestation is the development of cataracts, usually in infancy.
UDP-galactose-4-epimerase deficiency (GALE deficiency) is a rare inherited metabolic disorder that affects the body's ability to process galactose, a type of sugar found in milk, dairy products, and some fruits and vegetables. There are three forms of GALE deficiency: a severe or classic form, a mild or peripheral form, and a generalized form. The severity of symptoms varies widely depending on the specific form and the level of enzyme activity.
Alpha-mannosidosis is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is needed to break down complex sugars called oligosaccharides. When alpha-mannosidase is deficient, these sugars accumulate in various cells and tissues throughout the body, leading to a range of symptoms affecting multiple organ systems. The severity of the disease can vary greatly.
Beta-mannosidosis is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme beta-mannosidase. This enzyme is crucial for breaking down complex sugars called oligosaccharides. When beta-mannosidase is deficient, these oligosaccharides accumulate in various tissues and organs, leading to cellular dysfunction and a range of symptoms. The severity of the disease can vary widely, ranging from mild to severe.
Fucosidosis is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-fucosidase. This enzyme is needed to break down certain complex sugars (fucoglycoconjugates). The deficiency leads to the accumulation of these substances in various tissues and organs, causing a range of symptoms.
Sialidase deficiency encompasses a group of rare lysosomal storage disorders caused by a deficiency in the enzyme neuraminidase 1 (NEU1), also known as sialidase. This enzyme is essential for breaking down certain complex carbohydrates called sialylated glycoconjugates within lysosomes. The buildup of these undigested materials leads to a range of symptoms affecting various organ systems. The severity and specific symptoms can vary widely, leading to different classifications based on the age of onset and predominant features, including sialidosis type 1 (cherry red spot myoclonus syndrome), sialidosis type 2 (infantile, late-infantile, and juvenile forms), and galactosialidosis.
Aspartylglucosaminuria (AGU) is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme aspartylglucosaminidase (AGA). This enzyme is responsible for breaking down certain glycoproteins. Due to the deficiency, these glycoproteins accumulate in lysosomes throughout the body, leading to various developmental, neurological, and skeletal abnormalities.
Arylsulfatase A deficiency (ASA deficiency) leads to a group of inherited metabolic disorders called metachromatic leukodystrophy (MLD). In MLD, harmful fats called sulfatides accumulate in the brain, spinal cord, and peripheral nerves. This accumulation damages the myelin sheath, which protects nerve cells, ultimately impairing nerve function. MLD manifests in different forms based on the age of onset: late infantile, juvenile, and adult. Each form has a variable rate of progression.
Beta-glucuronidase deficiency, also known as Sly syndrome or mucopolysaccharidosis type VII (MPS VII), is a rare, inherited metabolic disorder caused by a deficiency of the enzyme beta-glucuronidase. This enzyme is essential for breaking down complex carbohydrates called glycosaminoglycans (GAGs), also known as mucopolysaccharides. When the enzyme is deficient, GAGs accumulate in cells and tissues throughout the body, leading to a wide range of symptoms affecting multiple organ systems. The severity of MPS VII varies greatly, ranging from mild to severe.
Multiple Sulfatase Deficiency (MSD) is a rare, inherited metabolic disorder characterized by the combined deficiency of several sulfatase enzymes. These enzymes are essential for breaking down complex molecules called sulfatides, glycosaminoglycans (GAGs), and steroids. The deficiency leads to the accumulation of these substances in the lysosomes, cellular compartments responsible for waste processing, resulting in progressive damage to various tissues and organs, particularly the brain, skeleton, and internal organs. MSD is classified as a lysosomal storage disorder. Severity varies, ranging from severe infantile forms to milder, later-onset forms.
Heparan N-sulfatase deficiency, also known as Sanfilippo syndrome type A (MPS IIIA), is a rare, inherited metabolic disorder that affects the body's ability to break down and recycle large sugar molecules called glycosaminoglycans (GAGs), specifically heparan sulfate. This deficiency leads to the accumulation of heparan sulfate in various tissues and organs, causing progressive damage, particularly in the brain and spinal cord. This results in severe neurological decline.
Iduronate-2-sulfatase deficiency, also known as Hunter syndrome or mucopolysaccharidosis type II (MPS II), is a rare, inherited lysosomal storage disorder. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which is needed to break down complex sugar molecules called glycosaminoglycans (GAGs), also known as mucopolysaccharides. The buildup of these GAGs in cells and tissues throughout the body leads to a wide range of symptoms affecting physical and neurological development. Hunter syndrome is X-linked recessive, meaning it primarily affects males.
Alpha-N-acetylglucosaminidase deficiency, also known as Sanfilippo syndrome type B (MPS IIIB), is a rare, inherited lysosomal storage disorder. It is caused by a deficiency of the enzyme alpha-N-acetylglucosaminidase, which is needed to break down a complex sugar molecule called heparan sulfate. The buildup of heparan sulfate leads to progressive damage to cells, tissues, and organs, particularly the brain. This results in a range of symptoms, primarily affecting the central nervous system. The severity of symptoms varies significantly between individuals.
Deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase (also known as Mucopolysaccharidosis IIIC or Sanfilippo syndrome type C) is a rare, inherited metabolic disorder characterized by the body's inability to properly break down specific complex sugar molecules called mucopolysaccharides (also known as glycosaminoglycans, or GAGs). This breakdown process requires the enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase. A deficiency in this enzyme leads to the accumulation of heparan sulfate (a type of GAG) within cells, particularly in the brain and other organs, leading to progressive neurological deterioration.
N-acetylgalactosamine-6-sulfate sulfatase deficiency (GALNS deficiency), also known as Morquio A syndrome (Mucopolysaccharidosis IVA), is a rare inherited metabolic disorder. It belongs to a group of diseases called mucopolysaccharidoses (MPS), which are characterized by the body's inability to properly break down certain complex sugar molecules called glycosaminoglycans (GAGs), also known as mucopolysaccharides. In Morquio A syndrome, a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) leads to the accumulation of keratan sulfate (a type of GAG) within cells, tissues, and organs. This accumulation causes a wide range of skeletal abnormalities and other symptoms. The severity of Morquio A syndrome varies widely from mild to severe.
Beta-galactosidase deficiency encompasses a spectrum of lysosomal storage disorders caused by a deficiency of the enzyme beta-galactosidase (also known as acid beta-galactosidase or GLB1). The severity of the disease varies widely, ranging from severe infantile forms (GM1 gangliosidosis type 1) to milder adult-onset forms (GM1 gangliosidosis type 3 and Morquio B disease). In all forms of the disease, glycosaminoglycans accumulate in the lysosomes of various cells, leading to a variety of signs and symptoms affecting multiple organ systems.
Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type A and B, is a rare, inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase (ASM). This enzyme is crucial for breaking down sphingomyelin, a fatty substance present in every cell of the body. When ASM is deficient, sphingomyelin accumulates in cells, particularly in the spleen, liver, lungs, and bone marrow. This accumulation leads to cellular dysfunction and organ damage. The severity of ASMD varies; type A is a severe, infantile-onset form, while type B is a less severe, later-onset form.
Galactocerebrosidase deficiency, also known as Krabbe disease or globoid cell leukodystrophy (GLD), is a rare, inherited metabolic disorder that affects the nervous system. It results from a deficiency of the enzyme galactocerebrosidase (GALC). This enzyme is necessary for the breakdown of certain fats (galactolipids), primarily galactocerebroside, in lysosomes. The buildup of these lipids, particularly psychosine, is toxic to cells, primarily the myelin-producing cells (oligodendrocytes) of the brain and spinal cord. This leads to demyelination, the destruction of the protective myelin sheath around nerve fibers, which impairs nerve function.
Acid ceramidase deficiency (ACD), also known as Farber disease or Farber lipogranulomatosis, is a rare autosomal recessive lysosomal storage disorder. It is characterized by the accumulation of ceramide in various tissues and organs due to a deficiency in the enzyme acid ceramidase. This accumulation leads to a range of symptoms affecting the joints, skin, and nervous system. The severity of the disease can vary widely.
Deficiency of glucocerebrosidase, also known as Gaucher disease, is a genetic disorder caused by a deficiency in the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside. When the enzyme is deficient, glucocerebroside accumulates in cells, particularly in the spleen, liver, and bone marrow, leading to various symptoms. Gaucher disease is classified into different types, primarily Type 1, Type 2, and Type 3, based on the presence and severity of neurological involvement.
Deficiency of alpha-galactosidase A refers to Fabry disease, a rare, inherited lysosomal storage disorder. It is caused by a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A), which leads to the accumulation of a fatty substance called globotriaosylceramide (Gb3) or GL-3 within cells throughout the body. This build-up can damage various organs and tissues, leading to a range of symptoms.
Hexosaminidase A deficiency leads to a group of inherited metabolic disorders known as Tay-Sachs disease and related conditions. These disorders result from the body's inability to properly break down certain fatty substances (lipids) called GM2 gangliosides. This breakdown process normally requires hexosaminidase A, an enzyme made up of two subunits, alpha and beta. When hexosaminidase A is deficient (due to mutations in the
HEXA
gene that codes for the alpha subunit), GM2 gangliosides accumulate to toxic levels, primarily in nerve cells (neurons) of the brain and spinal cord. This accumulation progressively damages the neurons, leading to the various symptoms observed in these disorders. The severity and onset of symptoms vary depending on the degree of enzyme deficiency.
This information refers to Sandhoff disease, caused by a deficiency of both hexosaminidase A and hexosaminidase B enzymes. This deficiency leads to the accumulation of a fatty substance called GM2 ganglioside in the brain, spinal cord, and other organs. This buildup damages nerve cells and causes progressive neurological deterioration. Sandhoff disease is a rare, inherited, and often fatal lysosomal storage disorder.
Saposin B deficiency is a rare, inherited lysosomal storage disorder classified as a type of metachromatic leukodystrophy (MLD). It results from a lack of functional saposin B protein, which is crucial for the proper breakdown of certain lipids called sulfatides within lysosomes. The accumulation of these sulfatides primarily affects the nervous system, leading to progressive neurological deterioration.
Deficiency of alpha-L-iduronidase refers to a group of genetic disorders known as mucopolysaccharidoses type I (MPS I). MPS I is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is crucial for breaking down complex sugar molecules called glycosaminoglycans (GAGs), previously known as mucopolysaccharides. When alpha-L-iduronidase is deficient or absent, GAGs accumulate within cells, leading to progressive damage to various organs and tissues. MPS I exists on a spectrum of severity, with the most severe form known as Hurler syndrome, and milder forms including Hurler-Scheie syndrome and Scheie syndrome.
Lysosomal acid lipase deficiency (LAL-D) is a rare, inherited metabolic disorder characterized by the buildup of fatty substances in cells throughout the body. This buildup occurs because the body doesn't produce enough of an enzyme called lysosomal acid lipase (LAL), which is needed to break down fats and cholesterol. LAL-D exists on a spectrum, with two main presentations: Wolman disease, the severe infantile form, and cholesteryl ester storage disease (CESD), a later-onset, milder form. Both forms lead to liver damage, elevated cholesterol, and other health complications.
Sialic acid storage disease (SASD) is a rare, inherited metabolic disorder caused by a deficiency in the sialin protein, which is responsible for transporting sialic acid (a sugar molecule) across the lysosomal membrane. This deficiency leads to the accumulation of free sialic acid within the lysosomes of cells throughout the body, leading to cellular dysfunction and a range of symptoms affecting multiple organ systems. SASD presents in a spectrum of severity ranging from a severe, infantile form (ISSD) to a milder, later-onset form (Salla disease).
Galactosylceramidase deficiency, also known as Krabbe disease or globoid cell leukodystrophy, is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme galactosylceramidase (GALC). This enzyme is crucial for breaking down certain fats called galactolipids, primarily galactosylceramide, which is an important component of myelin, the protective sheath around nerve fibers. Without sufficient GALC, galactolipids accumulate in the brain and other tissues, leading to demyelination, nerve damage, and severe neurological problems.
Cystinosis is a rare, inherited metabolic disorder characterized by the abnormal buildup of cystine (an amino acid) in various tissues and organs of the body. This buildup leads to the formation of cystine crystals, which damage cells and disrupt organ function. The most common and severe form is infantile nephropathic cystinosis. Without treatment, it leads to kidney failure during childhood. Later-onset and milder forms also exist.
Tripeptidyl peptidase 1 (TPP1) deficiency is a rare, inherited neurodegenerative disorder also known as late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease). It is caused by a deficiency in the TPP1 enzyme, which is crucial for breaking down proteins in lysosomes (cellular recycling centers). The buildup of these undigested proteins leads to progressive damage in the brain and other tissues. CLN2 disease is characterized by seizures, progressive loss of motor skills, vision loss, and cognitive decline. Without treatment, it is ultimately fatal.
Deficiency of palmitoyl-protein thioesterase 1 (PPT1) causes a neurodegenerative lysosomal storage disorder called neuronal ceroid lipofuscinosis type 1 (CLN1), also known as infantile Batten disease. It is a rare, inherited condition that primarily affects the nervous system. The deficiency of the PPT1 enzyme leads to the accumulation of lipofuscins (fatty, granular material) within cells, particularly in neurons, causing progressive loss of motor and cognitive functions.
Cathepsin D deficiency is a rare, autosomal recessive lysosomal storage disorder primarily affecting the nervous system. It's caused by a deficiency in the enzyme cathepsin D, which is crucial for breaking down proteins within lysosomes (cellular recycling centers). This deficiency leads to the accumulation of undigested material, particularly in brain cells, causing progressive neurodegeneration. There are two primary forms: congenital and late-onset. The congenital form is the more severe and rapidly progressing form, leading to severe neurological deterioration in early infancy.
Progranulin deficiency is primarily linked to two main neurological disorders: frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). In FTLD, progranulin mutations are a significant cause of the disease, leading to progressive deterioration of the frontal and temporal lobes of the brain, impacting personality, behavior, and language. NCL represents a group of inherited lysosomal storage disorders, and progranulin mutations have been associated with certain forms, resulting in neurodegeneration and various symptoms.
Deficiency of the mannose-6-phosphate receptor (M6PR) is a rare genetic disorder primarily affecting the delivery of lysosomal enzymes to lysosomes. Lysosomes are cellular organelles responsible for breaking down waste materials. M6PRs are essential for tagging and transporting these enzymes from the Golgi apparatus to the lysosomes. When M6PRs are deficient or dysfunctional, lysosomal enzymes are not properly delivered, leading to an accumulation of undegraded substances within cells. This can result in a variety of symptoms, often resembling lysosomal storage disorders. This condition is often associated with mutations in genes coding for proteins involved in M6PR function.
Lysosomal membrane protein 2 (LMP-2) deficiency is a rare genetic disorder characterized by a disruption in the normal function of lysosomes. Lysosomes are cellular organelles responsible for breaking down and recycling various molecules within the cell. LMP-2, also known as CD63, is a protein found in the lysosomal membrane, and it plays a role in lysosome biogenesis, trafficking, and function. The deficiency impairs the lysosomes' ability to properly process and clear cellular waste, leading to the accumulation of undigested materials within cells. This build-up can affect the function of various tissues and organs, causing a range of symptoms. However, a complete deficiency leading to a distinct clinical syndrome is not well-defined in humans. CD63 defects have been linked to Hermansky-Pudlak Syndrome type II, which is characterised by albinism, bleeding, and immunodeficiency.
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare, slowly progressive neurological disorder characterized by iron accumulation in the brain, particularly in the basal ganglia. It is a type of neurodegeneration with brain iron accumulation (NBIA). It typically presents with developmental delay, intellectual disability, and progressive dystonia (involuntary muscle contractions).
Deficiency of phospholipase A2-activating protein (PLA2G4C deficiency), is a rare genetic disorder caused by mutations in the PLA2G4C gene. This gene provides instructions for making the phospholipase A2-activating protein, which is involved in regulating inflammation, immune responses, and cell signaling. The deficiency can manifest with a range of symptoms, affecting the immune system, potentially leading to autoinflammation and immune dysregulation. The severity of the condition can vary greatly between individuals.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder characterized by progressive movement difficulties and other neurological problems. It is caused by mutations in the
PANK2
gene, which is responsible for producing an enzyme crucial for the metabolism of vitamin B5 (pantothenate). This metabolic dysfunction leads to iron accumulation in the brain, specifically in the basal ganglia, resulting in progressive neurodegeneration. PKAN falls under a larger group of disorders called Neurodegeneration with Brain Iron Accumulation (NBIA).
Coenzyme Q10 (CoQ10) deficiency is a condition where the body doesn't produce enough CoQ10. CoQ10 is a vital antioxidant that helps generate energy within cells, particularly in the mitochondria. Deficiency can lead to a variety of neurological, muscular, and other health problems, depending on the specific genetic mutation or underlying cause. It can manifest as a primary genetic defect or as a secondary consequence of other conditions or medications.
Succinate dehydrogenase (SDH) deficiency is a rare genetic disorder that disrupts cellular energy production. SDH is a crucial enzyme complex (Complex II) in the mitochondrial electron transport chain, which is essential for oxidative phosphorylation, the process by which cells generate ATP (the primary energy currency). A deficiency in SDH can lead to a variety of health problems due to impaired energy production. The effects can vary significantly depending on the specific gene affected, the severity of the deficiency, and the tissues most affected.
Cytochrome c oxidase (COX) deficiency is a mitochondrial disorder that affects the function of cytochrome c oxidase, a crucial enzyme complex in the electron transport chain responsible for cellular energy production (oxidative phosphorylation). This deficiency can impair energy production in cells, leading to a wide range of symptoms affecting various organs, particularly those with high energy demands such as the brain, muscles, and heart. The severity and onset of the disease can vary significantly.
Pyruvate carboxylase deficiency (PCD) is a rare inherited metabolic disorder that affects the body's ability to convert pyruvate (a product of glucose metabolism) into oxaloacetate, an essential component of the citric acid cycle (Krebs cycle) and gluconeogenesis. This deficiency disrupts energy production and the synthesis of glucose from non-carbohydrate sources, leading to a buildup of toxic substances in the body and a shortage of glucose. PCD presents with a range of severities, from a lethal neonatal form to milder, later-onset forms.
Ornithine transcarbamylase (OTC) deficiency is a genetic disorder that affects the urea cycle, a biochemical pathway that removes ammonia from the blood. In OTC deficiency, the enzyme ornithine transcarbamylase is either deficient or malfunctioning, leading to a buildup of ammonia in the bloodstream (hyperammonemia). This can cause serious neurological damage, coma, and even death, especially in newborns. It is the most common urea cycle disorder.
Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare genetic metabolic disorder that disrupts the urea cycle. The urea cycle is a series of biochemical reactions in the liver that removes ammonia, a toxic waste product of protein breakdown, from the blood. CPS1 deficiency is characterized by the inability to produce carbamoyl phosphate, the first step in the urea cycle. This leads to a buildup of ammonia in the blood (hyperammonemia), which can cause severe neurological damage.
Argininosuccinate synthetase deficiency (ASS deficiency), also known as citrullinemia type I, is a rare inherited metabolic disorder that disrupts the urea cycle. The urea cycle is a sequence of biochemical reactions that occur in the liver that process nitrogen, a waste product of protein metabolism, into urea, which is then excreted in urine. In ASS deficiency, a defect in the argininosuccinate synthetase enzyme prevents the proper conversion of citrulline to argininosuccinic acid, leading to an accumulation of ammonia (hyperammonemia) and other toxic substances in the blood. This can cause neurological damage and other serious health problems. There are different forms of the disease, with varying degrees of severity.
Argininosuccinate lyase deficiency (ASL deficiency), also known as argininosuccinic aciduria, is a rare inherited metabolic disorder that causes the build-up of ammonia and argininosuccinic acid in the blood. It is classified as a urea cycle disorder, which means that the body cannot properly eliminate nitrogen, a waste product of protein metabolism. This leads to hyperammonemia (high levels of ammonia in the blood), which can be toxic to the brain and other organs. The severity of ASL deficiency can vary widely, with some individuals experiencing symptoms shortly after birth (neonatal-onset) and others not developing symptoms until later in life.
Early diagnosis and treatment are essential to minimize neurological damage and improve long-term outcomes.
Lifelong management is necessary.
Individuals with arginase deficiency and their families require comprehensive support from medical professionals, including geneticists, metabolic specialists, neurologists, and dietitians.
Adherence to the treatment plan is paramount for optimal management.
Phenylalanine hydroxylase (PAH) deficiency, most commonly resulting in phenylketonuria (PKU), is an inherited metabolic disorder. It's characterized by a deficiency in the enzyme PAH, which is needed to break down the amino acid phenylalanine. This leads to a buildup of phenylalanine in the blood and brain, which can cause intellectual disability, seizures, and other serious health problems if untreated. The severity of the condition varies depending on the degree of enzyme deficiency.
N-acetylglutamate synthase (NAGS) deficiency is a rare genetic disorder that disrupts the urea cycle. The urea cycle is a series of biochemical reactions that occur in the liver to remove ammonia, a toxic waste product of protein metabolism, from the blood. NAGS deficiency results in hyperammonemia, or high levels of ammonia in the blood, which can lead to brain damage and other serious health problems.
Dihydrobiopterin reductase deficiency (DHPR deficiency) is a rare genetic disorder that disrupts the body's ability to process tetrahydrobiopterin (BH4). BH4 is an essential cofactor involved in several important metabolic pathways, including the production of neurotransmitters like dopamine, norepinephrine, and serotonin, as well as the breakdown of phenylalanine (an amino acid). Deficiency of DHPR leads to atypical phenylketonuria (PKU) and a shortage of neurotransmitters, impacting neurological function and development.
GTP cyclohydrolase I (GTPCH1) deficiency is a rare genetic disorder that affects the production of tetrahydrobiopterin (BH4). BH4 is a crucial cofactor for several enzymes involved in the synthesis of neurotransmitters like dopamine, norepinephrine, epinephrine, and serotonin, as well as nitric oxide. Deficiency in GTPCH1 can lead to a variety of neurological and developmental problems due to impaired neurotransmitter production. There are two main forms: autosomal dominant GTPCH1 deficiency (Segawa disease, also known as dopa-responsive dystonia) and autosomal recessive GTPCH1 deficiency, which is a more severe form often presenting as malignant hyperphenylalaninemia.
6-Pyruvoyltetrahydropterin synthase (PTPS) deficiency is a rare, inherited metabolic disorder that affects the production of tetrahydrobiopterin (BH4). BH4 is a crucial cofactor for several enzymes involved in the synthesis of neurotransmitters like dopamine, norepinephrine, epinephrine, and serotonin, as well as nitric oxide. PTPS deficiency leads to a build-up of phenylalanine in the blood (hyperphenylalaninemia) and a deficiency of these vital neurotransmitters. This can result in neurological problems.
Sepiapterin reductase deficiency (SRD) is a rare genetic disorder affecting the production of tetrahydrobiopterin (BH4). BH4 is an essential cofactor for several enzymes involved in the synthesis of neurotransmitters like dopamine, serotonin, and norepinephrine, as well as nitric oxide. SRD leads to neurological problems, movement disorders, and developmental delays due to the deficiency of these crucial substances. It's a treatable form of phenylketonuria (PKU) with unique characteristics.
Deficiency of branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, also known as Maple Syrup Urine Disease (MSUD), is a rare inherited metabolic disorder. It is characterized by the body's inability to properly break down certain amino acids (leucine, isoleucine, and valine). This leads to a buildup of these amino acids and their toxic byproducts in the blood and urine. If left untreated, MSUD can cause severe neurological damage.
Isovaleric acidemia (IVA), also known as isovaleryl-CoA dehydrogenase deficiency, is an inherited metabolic disorder caused by a deficiency in the enzyme isovaleryl-CoA dehydrogenase (IVD). This enzyme is essential for breaking down leucine, an amino acid found in protein. When IVD is deficient, isovaleric acid and other harmful substances accumulate in the blood and urine, potentially leading to serious health problems. IVA is classified as an organic acidemia.
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited metabolic disorder that prevents the body from properly processing leucine, an essential amino acid. This deficiency can lead to a buildup of harmful substances, potentially causing various health problems. The severity of the condition varies widely, with some individuals experiencing no symptoms (asymptomatic) and others suffering from severe complications.
3-Methylglutaconic aciduria type I (MGAuria type I) is a rare inherited metabolic disorder characterized by elevated levels of 3-methylglutaconic acid in the urine. It is primarily associated with mutations in the AUH gene. This condition can manifest with varying degrees of severity, ranging from asymptomatic individuals to those with severe neurological issues, developmental delays, and other systemic problems. Its presentation is usually during infancy or early childhood, and the exact mechanism by which the AUH deficiency causes the clinical features isn't completely understood.
Holocarboxylase synthetase deficiency (HCSD) is a rare, inherited metabolic disorder in which the body is unable to properly utilize biotin. Biotin is a vitamin necessary for the function of several carboxylase enzymes, which are critical for various metabolic processes. HCSD results from a deficiency of the enzyme holocarboxylase synthetase, which is responsible for attaching biotin to these carboxylases, activating them. Without sufficient active carboxylases, the body cannot efficiently process proteins, carbohydrates, and fats.
Methylcrotonyl-CoA carboxylase deficiency (MCCD), also known as 3-methylcrotonylglycinuria, is a rare inherited metabolic disorder. It is caused by a deficiency in the enzyme methylcrotonyl-CoA carboxylase (MCC), which is essential for breaking down the amino acid leucine and other organic compounds. This deficiency leads to a buildup of harmful substances in the blood and urine, potentially causing a range of health problems.
Biotinidase deficiency is an inherited metabolic disorder in which the body is unable to recycle or utilize biotin properly. Biotin is a B vitamin crucial for various metabolic processes, especially the breakdown of fats, carbohydrates, and proteins. Untreated biotinidase deficiency can lead to neurological and cutaneous (skin-related) problems. There are two forms of the disease: profound biotinidase deficiency and partial biotinidase deficiency, with differing levels of enzyme activity.
Beta-ketothiolase deficiency (BKD), also known as 2-methylacetoacetyl-CoA thiolase deficiency or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is a rare inherited metabolic disorder that affects the body's ability to process isoleucine and ketone bodies. This can lead to a buildup of toxic substances in the body, particularly during times of stress, illness, or fasting. The disorder is classified as an organic acidemia.
Electron transfer flavoprotein deficiency (ETF deficiency), also known as glutaric acidemia type II (GA II), is a rare inherited metabolic disorder that disrupts the body's ability to process proteins and fats. This leads to a buildup of harmful substances in the body, particularly organic acids. There are three main types, with varying severity and onset.
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II (GA-II), is a rare inherited metabolic disorder. It disrupts the body's ability to break down fats and certain proteins for energy, leading to an accumulation of harmful substances in the body. This deficiency stems from issues with the enzyme system involved in processing fatty acids, branched-chain amino acids, and lysine. MADD can present in different forms with varying severity, ranging from severe neonatal onset to milder adult onset.
Glutaric acidemia type 1 (GA-1) is a rare inherited metabolic disorder in which the body is unable to properly break down certain amino acids, particularly lysine, tryptophan, and hydroxylysine. This leads to a buildup of toxic substances, including glutaric acid, in the blood, brain, and other tissues. This accumulation can cause brain damage, especially in the basal ganglia, leading to movement disorders and other neurological problems.
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an inherited metabolic disorder that prevents the body from properly breaking down certain fats, particularly very-long-chain fatty acids. This can lead to energy deficiencies, especially during periods of fasting or illness. VLCADD is an autosomal recessive disorder, meaning both parents must carry a copy of the defective gene for their child to inherit the condition. Severity varies, with some individuals experiencing severe symptoms in infancy and others remaining asymptomatic until adulthood.
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited metabolic disorder that prevents the body from properly using fats for energy. This deficiency affects the transport of long-chain fatty acids into the mitochondria, the energy-producing centers of cells. Without proper transport, fatty acids cannot be broken down to produce energy, leading to energy depletion, particularly during periods of fasting or illness. This can result in serious complications affecting the heart, liver, and muscles.
Carnitine palmitoyltransferase I deficiency (CPT I deficiency) is a rare genetic metabolic disorder that prevents the body from using certain fats for energy, particularly during periods without food (fasting). CPT I is an enzyme located in the liver that is essential for transporting long-chain fatty acids into the mitochondria, where they can be broken down to produce energy. Without sufficient CPT I, these fatty acids cannot be utilized, leading to a reliance on glucose for energy. This can result in low blood sugar (hypoglycemia) and a buildup of toxic fatty acids in the body.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency), also known as 3-Hydroxyisobutyryl-CoA hydrolase deficiency, is a rare inherited metabolic disorder that prevents the body from properly processing the amino acid valine. This can lead to a buildup of harmful substances in the body, affecting various organs and systems. MHBD deficiency is classified as an inborn error of metabolism and specifically, an organic acidemia.
3-hydroxyisobutyryl-CoA hydrolase deficiency (HIBCH deficiency) is a rare inherited metabolic disorder that affects the breakdown of the amino acid valine. It leads to an accumulation of toxic intermediate compounds, primarily 3-hydroxyisobutyric acid, which can disrupt normal cellular function, particularly in the brain and muscles. The condition typically manifests in infancy or early childhood.
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder in which the body cannot properly break down certain proteins and fats. This leads to a buildup of methylmalonic acid and other harmful substances in the blood, urine, and tissues. There are different types of MMA, caused by different genetic defects, each affecting how the body processes methylmalonic acid. The severity of MMA varies widely among affected individuals.
Propionic acidemia (PA) is a rare inherited metabolic disorder that prevents the body from properly breaking down certain parts of protein and fats. This leads to a buildup of propionic acid and other harmful substances in the blood, which can damage organs and tissues, particularly the brain, heart, and liver. It is classified as an organic acidemia.
Deficiency of cobalamin (vitamin B12) processing refers to a group of inherited disorders that impair the body's ability to absorb, transport, or utilize cobalamin. This can lead to cobalamin deficiency despite adequate dietary intake. These defects affect various steps in cobalamin metabolism, leading to a buildup of precursor molecules and a lack of functional cobalamin coenzymes. Untreated cobalamin processing defects can cause serious neurological damage, developmental delays, and metabolic complications.
Adenosine deaminase deficiency (ADA-SCID) is a rare, inherited metabolic disorder that severely damages the immune system, leading to severe combined immunodeficiency (SCID). This means individuals with ADA-SCID are extremely vulnerable to infections because their bodies cannot fight them effectively. ADA is an enzyme essential for breaking down toxic metabolic byproducts. When deficient, these byproducts accumulate, particularly in lymphocytes (white blood cells), disrupting their development and function.
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder that primarily affects the immune system. It is characterized by a severe T-cell immunodeficiency, leading to increased susceptibility to infections. The lack of functional PNP enzyme causes an accumulation of toxic metabolites (deoxyguanosine) that selectively damages T lymphocytes. This results in a weakened immune response, leaving affected individuals vulnerable to opportunistic infections. Neurological problems can also occur in some cases.
Adenylosuccinate lyase (ADSL) deficiency is a rare, inherited metabolic disorder that affects the purine nucleotide cycle. This cycle is crucial for various bodily functions, including cell growth, energy production, and brain development. The deficiency results from a mutation in the
ADSL
gene, leading to a build-up of two abnormal chemicals, succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado), in body fluids. This accumulation can cause a range of neurological and developmental issues.
Succinyl-CoA ligase [GDP-forming] deficiency (also known as succinate thiokinase deficiency or STK deficiency) is a very rare genetic metabolic disorder that disrupts the citric acid cycle (Krebs cycle), a vital process for cellular energy production. It primarily affects tissues with high energy demands, such as the brain, muscles, and heart. The deficiency results from mutations in the SUCLG2 gene (or sometimes SUCLA2). Affected individuals often present with variable combinations of developmental delay, muscle weakness (hypotonia), lactic acidosis, and feeding difficulties. In severe cases, it can lead to life-threatening complications.
Succinyl-CoA ligase [ADP-forming] deficiency (also known as succinate thiokinase deficiency, ADP-forming) is a very rare inherited metabolic disorder that disrupts the body's ability to produce energy from food. Specifically, it affects the citric acid cycle (Krebs cycle), a crucial process within mitochondria (the energy-producing centers of cells). This deficiency leads to a buildup of toxic substances in the body, especially affecting tissues with high energy demands like the brain, muscles, and heart.
Fumarase deficiency is a rare, inherited metabolic disorder caused by a lack of the enzyme fumarase. This enzyme is essential for the Krebs cycle (also known as the citric acid cycle or tricarboxylic acid cycle), a crucial process that cells use to produce energy. A deficiency leads to a buildup of fumaric acid in bodily fluids, particularly in the brain, resulting in neurological problems and developmental delays.
Malate dehydrogenase (MDH) deficiency is a rare genetic metabolic disorder that disrupts the citric acid cycle (Krebs cycle) responsible for cellular energy production. This deficiency primarily affects the nervous system and muscles due to reduced energy availability. MDH deficiency can manifest in varying degrees of severity.
Deficiency of alpha-ketoglutarate dehydrogenase complex (α-KGDHC) is a rare metabolic disorder affecting the Krebs cycle (also known as the citric acid cycle or tricarboxylic acid cycle). The Krebs cycle is a crucial pathway in cellular respiration, responsible for generating energy from carbohydrates, fats, and proteins. A deficiency in α-KGDHC impairs this energy production process. As this is an extremely rare disorder, much about its precise presentation and long-term course is not fully understood.
Dihydrolipoamide dehydrogenase (DLDH) deficiency, also known as E3 deficiency, is a rare inherited metabolic disorder that disrupts the body's ability to process certain amino acids and carbohydrates. This deficiency affects several important enzyme complexes involved in energy production within the mitochondria. These complexes include the pyruvate dehydrogenase complex (PDH), alpha-ketoglutarate dehydrogenase complex (α-KGDH), branched-chain ketoacid dehydrogenase complex (BCKDH), and the glycine cleavage system. A defect in the DLDH enzyme disrupts the function of all these complexes, leading to a build-up of toxic substances in the blood and tissues.
Deficiency of branched-chain ketoacid dehydrogenase kinase (BCKDK) is a rare genetic disorder that affects the metabolism of branched-chain amino acids (BCAAs): leucine, isoleucine, and valine. BCKDK regulates the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, which is crucial for breaking down BCAAs. A deficiency in BCKDK leads to excessive BCKDH activity, resulting in reduced levels of BCAAs in the blood. This deficiency primarily impacts brain development, causing intellectual disability and neurological symptoms.
Pyruvate kinase deficiency (PKD) is an inherited metabolic disorder that primarily affects red blood cells. It's caused by a lack of the enzyme pyruvate kinase (PK), which is crucial for the proper metabolism of red blood cells. This deficiency leads to chronic hemolytic anemia, meaning that red blood cells are destroyed faster than the body can produce them.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that primarily affects red blood cells. It is caused by a lack or defect in the G6PD enzyme, which is crucial for protecting red blood cells from damage and premature destruction (hemolysis). This can lead to hemolytic anemia, where red blood cells are destroyed faster than they can be produced, resulting in a shortage of oxygen delivery throughout the body. The severity of G6PD deficiency varies, with some individuals experiencing no symptoms while others have severe, life-threatening hemolytic crises.
Phosphofructokinase (PFK) deficiency, also known as Tarui disease (Glycogen Storage Disease Type VII), is a rare genetic metabolic disorder affecting the enzyme phosphofructokinase, which is crucial for glycolysis (the breakdown of glucose for energy). This deficiency primarily impacts muscle cells and red blood cells, leading to muscle cramps and hemolytic anemia.
Phosphoglycerate kinase (PGK) deficiency is a rare, inherited metabolic disorder affecting glycolysis, the process by which cells break down glucose for energy. It's caused by mutations in the PGK1 gene, which provides instructions for making the phosphoglycerate kinase 1 enzyme. This enzyme is crucial for one of the steps in glycolysis. A deficiency in this enzyme can affect various tissues, especially those with high energy demands, such as muscles and the brain. The severity of PGK deficiency varies widely among affected individuals.
Lactate dehydrogenase (LDH) deficiency is a rare genetic metabolic disorder that affects the enzyme lactate dehydrogenase. LDH plays a crucial role in energy production, specifically in the conversion of pyruvate to lactate. Different forms of LDH deficiency exist, depending on which subunit of the enzyme is affected (LDH-A or LDH-B). These deficiencies can primarily impact muscle function (LDH-A deficiency) or red blood cell metabolism (LDH-B deficiency). Most individuals with LDH deficiency have no obvious symptoms.
Hereditary Fructose Intolerance (HFI) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme aldolase B. This enzyme is primarily found in the liver, kidney, and small intestine and is essential for breaking down fructose. When aldolase B is deficient, the body cannot properly metabolize fructose, leading to a buildup of fructose-1-phosphate. This buildup can cause various health problems, primarily affecting the liver and kidneys.
Fructose-1,6-bisphosphatase deficiency (FBPase deficiency) is a rare genetic metabolic disorder that affects the body's ability to produce glucose from non-carbohydrate sources (gluconeogenesis) and to break down glycogen (glycogenolysis). This can lead to low blood sugar (hypoglycemia), a buildup of lactic acid (lactic acidosis), and other metabolic problems, particularly during times of stress, illness, or fasting.
Glycogen synthase deficiency (GSD 0) is a very rare genetic metabolic disorder in which the body cannot properly store glucose as glycogen in the liver and muscle tissues. This is due to a deficiency of the enzyme glycogen synthase. It primarily affects the liver (hepatic form) or the muscles (muscle form), leading to problems with blood sugar regulation and energy production. The hepatic form is more common and leads to hypoglycemia. The muscle form leads to muscle fatigue and cramps after exercise.
Phosphorylase kinase deficiency (PHK deficiency) is a genetic disorder that affects how the body breaks down glycogen, a stored form of glucose. This breakdown, called glycogenolysis, is essential for energy production, especially in the liver and muscles. PHK deficiency typically affects the liver and/or muscles, leading to different subtypes with varying symptoms and severity. The most common type primarily affects the liver, often resulting in milder symptoms that may improve with age. Other forms can affect muscle function more significantly.
Acid maltase deficiency (AMD), also known as Pompe disease or glycogen storage disease type II (GSD II), is a rare, inherited metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a stored form of sugar, in the lysosomes of cells. When GAA is deficient, glycogen accumulates in various tissues and organs, particularly muscles, leading to progressive muscle weakness and other complications. The severity and age of onset vary, leading to classifications of infantile-onset, late-onset (childhood/juvenile), and adult-onset Pompe disease.
Deficiency of debranching enzyme, also known as Glycogen Storage Disease Type III (GSD III) or Cori disease/Forbes disease, is a rare genetic disorder affecting the way the body breaks down glycogen. Glycogen is a stored form of glucose (sugar) used for energy. In GSD III, the debranching enzyme, which is crucial for releasing glucose from glycogen, is deficient or non-functional, leading to an accumulation of abnormal glycogen in the liver, muscles, and sometimes the heart.
Glycogen storage disease type IV (GSD IV), also known as Andersen's disease or amylopectinosis, is a rare inherited metabolic disorder caused by a deficiency of the glycogen branching enzyme (GBE). This enzyme is essential for forming the branched structure of glycogen, the storage form of glucose in the body. The deficiency leads to the accumulation of abnormal glycogen with long, unbranched chains (amylopectin-like), primarily in the liver, muscles, and other tissues. This abnormal glycogen is poorly soluble and causes progressive organ damage.
Deficiency of muscle phosphorylase, also known as McArdle's disease or glycogen storage disease type V (GSD V), is a rare genetic metabolic disorder affecting skeletal muscle. It is characterized by the body's inability to break down glycogen (stored glucose) in muscle tissue due to a deficiency in the enzyme muscle phosphorylase. This enzyme is crucial for providing energy during exercise.
Phosphofructokinase (PFK) deficiency, also known as Tarui disease or Glycogen Storage Disease Type VII (GSD VII), is a rare genetic metabolic disorder affecting the enzyme phosphofructokinase. This enzyme plays a crucial role in glycolysis, the process by which glucose (sugar) is broken down for energy. A deficiency in PFK primarily affects muscle and red blood cells, leading to muscle weakness, fatigue, and hemolytic anemia (destruction of red blood cells).
Lysosomal acid lipase deficiency (LAL-D) is a rare, inherited metabolic disorder caused by a deficiency in the lysosomal acid lipase (LAL) enzyme. This enzyme is crucial for breaking down fats (lipids), specifically cholesteryl esters and triglycerides, within lysosomes. When LAL is deficient or absent, these lipids accumulate in various organs, primarily the liver, spleen, and intestines, leading to progressive organ damage and a range of health problems. LAL-D presents on a spectrum, with two main forms: Wolman disease (severe, early-onset) and cholesteryl ester storage disease (CESD) (later-onset, less severe).
Deficiency of neutral ceramidase (also known as Farber disease or Farber lipogranulomatosis) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme acid ceramidase. This enzyme is responsible for breaking down a fatty substance called ceramide. When acid ceramidase is deficient, ceramide accumulates in cells and tissues throughout the body, leading to a range of symptoms. The severity and specific symptoms can vary greatly among affected individuals.
Acid ceramidase deficiency (ACD), also known as Farber disease or Farber lipogranulomatosis, is a rare, autosomal recessive lysosomal storage disorder. It results from a deficiency in the enzyme acid ceramidase, which is responsible for breaking down ceramide, a type of lipid. This deficiency leads to the accumulation of ceramide in various tissues, particularly the joints, skin, and nervous system, causing a range of symptoms. The severity and progression of Farber disease vary significantly among affected individuals, with some experiencing early and severe manifestations, while others have a later onset and milder symptoms.
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