Summary about Disease
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.
Symptoms
Symptoms typically appear in infancy and can vary in severity. Common symptoms include:
Severe developmental delay and intellectual disability
Seizures
Hypotonia (poor muscle tone)
Microcephaly (abnormally small head)
Unusual facial features (e.g., prominent forehead, widely spaced eyes)
Lethargy and feeding difficulties
Polycythemia (abnormally high red blood cell count)
Brain abnormalities detectable by MRI
Causes
Fumarase deficiency is caused by mutations in the FH gene, which provides instructions for making the fumarase enzyme. It is inherited in an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Individuals who inherit only one copy are carriers and usually do not show symptoms.
Medicine Used
There is no specific cure for fumarase deficiency. Treatment focuses on managing symptoms and providing supportive care. Some potential treatments that doctors may consider:
Nutritional therapy: Diet modifications may be recommended to help manage the buildup of fumaric acid.
Medications for seizures: Anticonvulsant medications are used to control seizures.
Physical and occupational therapy: These therapies can help improve motor skills and overall function.
Management of other symptoms: Treatment is tailored to address specific symptoms as they arise.
Is Communicable
No, fumarase deficiency is not communicable. It is a genetic disorder caused by gene mutations and cannot be spread from person to person through infection or any other means.
Precautions
Since fumarase deficiency is a genetic disorder, there are no preventive measures in the traditional sense. However, genetic counseling is important for families with a history of the condition. Genetic testing can identify carriers of the mutated gene, allowing informed decisions about family planning.
How long does an outbreak last?
Fumarase deficiency is not an outbreak situation, as it is a genetic condition present from birth. It's a chronic condition with symptoms that persist throughout the individual's life.
How is it diagnosed?
Diagnosis typically involves:
Clinical evaluation: Based on physical examination and symptoms.
Blood and urine tests: To detect elevated levels of fumaric acid.
Enzyme assay: To measure the activity of the fumarase enzyme in cells.
Genetic testing: To identify mutations in the FH gene.
Brain imaging (MRI): To look for characteristic brain abnormalities.
Timeline of Symptoms
Infancy: Symptoms usually appear in early infancy, often within the first few months of life.
Early childhood: Symptoms persist and may become more apparent as the child fails to meet developmental milestones.
Throughout life: Fumarase deficiency is a chronic condition, and the associated symptoms and challenges continue throughout the individual's lifespan.
Important Considerations
Early Diagnosis: Early diagnosis is crucial for prompt management of symptoms and supportive care.
Multidisciplinary approach: Management requires a multidisciplinary team, including neurologists, geneticists, dietitians, therapists, and other specialists.
Genetic counseling: Genetic counseling is essential for families affected by fumarase deficiency to understand the inheritance pattern, risks, and available options.
Research: Ongoing research is aimed at developing better treatments and potentially a cure for fumarase deficiency.
Support groups: Support groups can provide valuable resources and emotional support for families affected by this rare disorder.