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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
ACADM gene
MCAD is a disorder of fatty acid oxidation caused by mutations in the ACADM gene. Presenting symptoms, which typically occur in childhood, include hypoglycemia, vomiting, lethargy, seizures and sudden infant death syndrome. Complications include respiratory difficulties, hepatic dysfunction, neurologic deficits and coma. The disorder is characterized by high mortality, however, milder variants exist and adult onset can occur. Significant phenotypic heterogeneity may occur even within a family. Infants with MCAD deficiency are often identified initially through newborn screening programs. Newborn screening reveals the accumulation of octanoylcarnitine, which is characteristic of MCAD deficiency. Follow-up testing for MCAD deficiency is usually by analysis of plasma acylcarnities, with confirmation by molecular diagnosis. In clinically diagnosed patients, and those patients whose initial newborn screening was confirmed using follow-up testing of plasma acylcarnitine and/or urinary organic acid analysis, mutation analysis identified a sequence variant in over 95% of cases. The K304E missense mutation accounts for up to 85% of mutant ACADM alleles, based on newborn screening in the United States.
Using genomic DNA obtained blood (2mL for infants, 5mL for adults in EDTA), or buccal swabs (not accepted on infants), bi-directional sequence of the coding region and splice junctions of the ACADM gene (exons 1-12) is analyzed, including the common K304E mutation. Carrier testing and prenatal diagnosis is available once the mutation in the family has been identified.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
MCAD, MCADD, ACADM, HELLP, Reye syndrome, urine organic analysis, acylglycines, SIDS, enzyme, carnitine, Lys304Glu, octanoic acid, decanoic acid, hexanoic acid, hexanoylglycine, phenylpropionylglycine, suberylglycine, palmitic acid, ketones, aciduria, fasting, newborn screening, dicarboxylic acids, 985A->G, K329E
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