MCAD deficiency
MCAD Deficiency
MCAD deficiency, or Medium-chain acyl-CoA dehydrogenase deficiency, is a genetic disorder that affects the body's ability to convert certain fats to energy, particularly during periods without food (fasting). It is one of the most common fatty acid oxidation disorders and is inherited in an autosomal recessive pattern.
Overview[edit | edit source]
MCAD deficiency is caused by mutations in the ACADM gene, which provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase. This enzyme is essential for the breakdown of medium-chain fatty acids, a type of fat found in the diet and stored in the body. When this enzyme is deficient or absent, medium-chain fatty acids cannot be properly metabolized, leading to an accumulation of these fats and a shortage of energy.
Symptoms[edit | edit source]
Symptoms of MCAD deficiency typically appear in infancy or early childhood and can include:
- Hypoglycemia (low blood sugar)
- Lethargy
- Vomiting
- Seizures
- Coma
If untreated, MCAD deficiency can lead to serious complications such as liver dysfunction, brain damage, and sudden death.
Diagnosis[edit | edit source]
MCAD deficiency is often diagnosed through newborn screening programs, which test for elevated levels of certain metabolites in the blood. Confirmatory testing involves genetic testing to identify mutations in the ACADM gene.
Treatment[edit | edit source]
Management of MCAD deficiency involves avoiding fasting and ensuring a regular intake of calories, particularly during illness or stress. A high-carbohydrate, low-fat diet may be recommended, and supplements such as carnitine may be prescribed to help with energy production.
Genetics[edit | edit source]
MCAD deficiency is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Carriers, who have one normal and one mutated gene, typically do not show symptoms.
Epidemiology[edit | edit source]
MCAD deficiency is most common in people of Northern European descent, with an estimated incidence of 1 in 10,000 to 1 in 20,000 births.
Also see[edit | edit source]
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