Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)


Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an inborn error of metabolism, an inherited condition in which an enzyme, medium-chain acyl-CoA dehydrogenase, in the body is either missing or not working well. The job of this enzyme is to help break down certain fats to use for energy. MCAD deficiency is considered a fatty acid oxidation condition because people with MCAD deficiency are unable to change some fats into the energy the body needs to function and too many unused fatty acids build up in the body. Symptoms of MCAD deficiency can include poor feeding, vomiting, low blood sugar (hypoglycemia), extreme tiredness/lethargy, breathing difficulties, irritability, changes in muscle tone, seizures, liver problems and/or other potential signs and symptoms. MCAD deficiency is a potentially life-threatening condition. Illness or infections and going too long without food for any reason are some examples of circumstances that could also trigger symptoms of MCAD deficiency. Early detection and ongoing management can benefit children with MCAD deficiency. Management includes avoidance of prolonged fasting, and may include a special diet, medication/supplements, other special precautions and emergency recommendations. Support groups are available to help connect families living with MCAD deficiency with others who have experience or expertise with this condition.

To learn more about Medium-chain acyl-CoA dehydrogenase deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Medium-chain acyl-CoA dehydrogenase deficiency and Baby's First Test: Medium-chain acyl-CoA dehydrogenase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.