Medium Chain Acyl‑CoA Dehydrogenase (ACADM) 2 Mutations

Use

This test is the preferred initial molecular test to confirm a diagnosis or identify carriers of medium chain acyl‑CoA dehydrogenase (MCAD) deficiency for individuals with suggestive clinical and/or biochemical findings. It targets specifically two pathogenic variants (c.985A>G; p.K329E and c.199T>C; p.Y67H) in the ACADM gene associated with MCAD deficiency. Genetic testing is indicated by a positive newborn screen or after positive biochemical tests in a newly symptomatic individual. MCAD deficiency is an autosomal recessive inborn error of metabolism that can present with hypoketotic hypoglycemia, lethargy, seizure, coma, hepatomegaly, encephalopathy, Reye‑like syndrome, or sudden death, typically between 3 and 24 months of age. Once diagnosed, patients generally have a good prognosis under appropriate management. ARUP notes that approximately 75% clinical sensitivity is observed in White individuals. ACADM variants other than the two specified will not be detected by this assay.