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.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Medium Chain Acyl-CoA Dehydrogenase DeficiencyACADM2-9, 11 [12] (*11)ARCaucasian1 in 5586%0.00258397932816537
Medium Chain Acyl-CoA Dehydrogenase DeficiencyACADM2-9, 11 [12] (*11)ARAsian1 in 17838%0.0034965034965035
Medium Chain Acyl-CoA Dehydrogenase DeficiencyACADM2-9, 11 [12] (*11)ARWorldwide1 in 6970%0.0043859649122807