Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, often during periods without food.
Symptoms typically appear during infancy or early childhood, and include vomiting, lack of energy, and low blood sugar (hypoglycemia). Affected individuals are also at risk of more serious complications including seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. This disorder can be managed through diet and lifestyle changes, including more frequent feedings with adequate calories from complex carbohydrates to maintain blood sugar and avoid hypoglycemia.
This condition is caused by pathogenic (disease-causing) variants in the ACADM gene. MCAD exhibits autosomal recessive inheritance, which means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms of the disorder.
Resources:
National Organization for Rare Disorders (NORD)
Fatty Oxidation Disorders Family Support Group
Revised August 2022
