Medium/Short-Chain L-3-hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) is an inborn error of metabolism, an inherited condition in which an enzyme, 3-hydroxyacyl-CoA dehydrogenase, in the body is either missing or not working well. M/SCHAD deficiency is considered a fatty acid oxidation condition because people with the condition are unable to change some fats into energy the body needs to function. This can cause unused fatty acids to build up in the body. Symptoms can vary and may include low blood sugar (hypoglycemia), extreme tiredness/lethargy, seizures and/or other potential signs and symptoms. M/SCHAD deficiency can be a life-threatening condition. Support groups are available to help connect families living with M/SCHAD deficiency with others who have experience or expertise with fatty acid oxidation conditions.
For more information about Medium/short-chain acyl-CoA dehydrogenase deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Medium/short-chain acyl-CoA dehydrogenase deficiency and Baby's First Test: Medium/short-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.