Medium-chain acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited metabolic disease characterized by lethargy, vomiting, and low blood sugar triggered by fasting or common illness. It can quickly progress to liver problems, seizures, coma, and death, if untreated. MCAD deficiency involves abnormalities in an enzyme involved in the break down of medium-chain fatty acids that are used for energy in the cells. Symptoms associated with MCAD deficiency are due to low levels of energy in cells and the toxic build-up of fatty acids, which causes damage to the cells, especially in the liver and brain. View testing options