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Medium chain acyl CoA dehydrogenase deficiency MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
*Lipid Metabolism, Inborn Errors
Acyl-CoA Dehydrogenase / *deficiency
Frequency
105
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 Preferred
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