This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses.
MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death.
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