Summary about Disease
1. SUMMARY ABOUT DISEASE 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.
Symptoms
2. SYMPTOMS Symptoms of MCADD can vary widely. They can include:
Lethargy
Vomiting
Hypoglycemia (low blood sugar)
Seizures
Liver problems
Breathing difficulties
Coma
Sudden Infant Death Syndrome (SIDS) in undiagnosed cases.
Symptoms are often triggered by periods of fasting or illness.
Causes
3. CAUSES MCADD is caused by mutations in the ACADM gene, which provides instructions for making the medium-chain acyl-CoA dehydrogenase (MCAD) enzyme. This enzyme is essential for breaking down medium-chain fatty acids. Mutations in the *ACADM* gene lead to a deficiency or absence of functional MCAD enzyme, disrupting fatty acid metabolism. It is inherited in an autosomal recessive pattern.
Medicine Used
4. MEDICINE USED There is no specific medicine to "cure" MCADD, management focuses on preventing metabolic crises. Treatment primarily involves:
Frequent Feeding: Avoiding prolonged periods of fasting is crucial. Infants and young children may need to be fed every few hours, even during the night.
Intravenous Glucose: During illness or stress, intravenous glucose (sugar) may be needed to provide the body with an alternative energy source and prevent hypoglycemia.
L-Carnitine Supplementation (sometimes): L-Carnitine is sometimes prescribed. Although its efficacy is debated for MCADD, it can help remove accumulated fatty acid byproducts.
Is Communicable
5. IS COMMUNICABLE No, MCADD is not communicable. It is a genetic disorder caused by mutations in the ACADM gene, not by an infectious agent.
Precautions
6. PRECAUTIONS The primary precautions for individuals with MCADD involve:
Avoiding Fasting: Strict adherence to a regular feeding schedule is vital, especially for infants and young children.
Increased Calorie Intake During Illness: During illness, the body needs more energy. It's essential to ensure adequate carbohydrate intake to prevent the body from resorting to fatty acid breakdown.
Emergency Protocol: Parents and caregivers should have a clear emergency protocol, including knowing when to seek medical attention (e.g., vomiting, lethargy, seizures). Medical bracelets or necklaces are recommended to identify the patient has MCADD.
Dietary Management: Consultation with a metabolic dietician is very important.
How long does an outbreak last?
7. HOW LONG DOES AN OUTBREAK LAST? MCADD is not an outbreak-related disease. Metabolic crises can occur during periods of fasting, illness, or stress. The duration of a crisis varies depending on the severity and how quickly it is treated. Prompt intervention with glucose administration can resolve a crisis within hours. Without treatment, a crisis can lead to severe complications and even death.
How is it diagnosed?
8. HOW IS IT DIAGNOSED? MCADD is typically diagnosed through:
Newborn Screening: Many countries include MCADD in their newborn screening programs, using a blood test to detect abnormal levels of acylcarnitines.
Acylcarnitine Profile: This blood test measures the levels of different acylcarnitines, which can indicate problems with fatty acid metabolism.
Urine Organic Acid Analysis: This urine test can detect abnormal organic acids that accumulate due to metabolic defects.
Genetic Testing: DNA analysis can confirm the diagnosis by identifying mutations in the ACADM gene.
Enzyme Assay: Measuring the activity of the MCAD enzyme in blood cells can confirm the diagnosis, but is less frequently used.
Timeline of Symptoms
9. TIMELINE OF SYMPTOMS The timeline of symptoms varies, but here's a general overview:
Infancy/Early Childhood: Symptoms are most common during this period, often triggered by illness or fasting.
First Episode: The first episode can occur as early as a few days after birth, but may not manifest until later infancy or early childhood.
During Illness/Fasting: Symptoms develop relatively quickly (within hours) when the body runs out of readily available glucose and starts to rely on fatty acid breakdown.
Untreated: Untreated episodes can rapidly progress to lethargy, vomiting, seizures, coma, and even death. Early detection and proper management are crucial to prevent symptom onset and progression.
Important Considerations
10. IMPORTANT CONSIDERATIONS
Lifelong Management: MCADD requires lifelong management to prevent metabolic crises.
Education: Parents, caregivers, and affected individuals need comprehensive education about the condition, its management, and emergency protocols.
Dietary Management: A registered dietitian specializing in metabolic disorders is essential for developing an appropriate diet plan.
Genetic Counseling: Genetic counseling is recommended for families affected by MCADD to understand the inheritance pattern and recurrence risk.
Emergency Plan: Develop a detailed emergency plan with your doctor, including a letter explaining the condition for emergency room personnel.
Regular Monitoring: Regular follow-up with a metabolic specialist is necessary to monitor the effectiveness of treatment and adjust management strategies as needed.