What is medium-chain acyl-coenzyme A dehydrogenase deficiency?
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with medium-chain acyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for the step that metabolizes a group of fats called medium-chain fatty acids. Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to medium-chain acyl-coenzyme A dehydrogenase deficiency occurs during adulthood. People with this disorder are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain da