Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a pan-ethnic autosomal recessive condition caused by pathogenic variants in the gene ACADM. It prevents the body from releasing energy from fats. Symptoms often begin in infancy, although the clinical presentation is highly variable and some affected individuals do not show symptoms until adulthood if at all. MCAD deficiency causes metabolic crises, which present with lethargy and vomiting. Some infants may present with sudden death. Dietary management greatly reduces the risk of metabolic crises and allows affected individuals to live relatively normal lives. Although metabolic crises can be fatal, affected individuals who have a known diagnosis and receive proper care have normal life expectancy. Some ACADM variants are known to be associated with milder disease, although it is not possible to exactly predict the severity of disease based on the inherited variants.

For information about carrier frequency and residual risk, please see the residual risk table.