MeSH Browser

MeSH Supplementary: Medium chain acyl CoA dehydrogenase deficiency
Unique ID: C536038
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536038
Entry Term(s): ACADM Deficiency; Acyl-CoA dehydrogenase, medium chain, deficiency of; Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of; Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency; MCAD Deficiency; MCADH Deficiency; Medium Chain Acyl-Coa Dehydrogenase Deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Medium-chain Acyl-CoA dehydrogenase deficiency
Registry Numbers: 0
Heading Mapped to: *Lipid Metabolism, Inborn Errors; Acyl-CoA Dehydrogenase / deficiency
Frequency: 106
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Medium chain acyl CoA dehydrogenase deficiency MeSH Supplementary Concept Data 2024