Medium chain acyl CoA dehydrogenase deficiency [Supplementary Concept]

An inherited deficiency of medium-chain acyl-CoA dehydrogenase that is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic COMA; medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue CARNITINE levels. The disorder may be severe, and even fatal, in young patients. Germline mutations have been identified in the ACADM gene. OMIM: 201450

Date introduced: August 25, 2010

MeSH Unique ID: C536038

Heading Mapped to:

• Lipid Metabolism, Inborn Errors
• Acyl-CoA Dehydrogenase/deficiency

Entry Terms:

• MCAD Deficiency
• Acyl-CoA dehydrogenase, medium chain, deficiency of
• Medium-chain Acyl-CoA dehydrogenase deficiency
• Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency
• Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of
• Medium Chain Acyl-Coa Dehydrogenase Deficiency
• Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
• MCADH Deficiency
• ACADM Deficiency