MeSH Browser

MeSH Supplementary: Short chain Acyl CoA dehydrogenase deficiency
Unique ID: C537596
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537596
Entry Term(s): Acads Deficiency; Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of; Deficiency of Butyryl-Coa Dehydrogenase; Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency; Scad Deficiency; Scadh Deficiency; Short-Chain Acyl-Coa Dehydrogenase Deficiency; Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Registry Number: 0
Heading Mapped to: *Lipid Metabolism, Inborn Errors; Acyl-CoA Dehydrogenase / *deficiency
Frequency: 29
Note: An autosomal recessive metabolic disorder of fatty acid beta-oxidation with variable clinical features; a severe form of the disorder can cause infantile onset of ACIDOSIS and neurologic impairment, whereas some patients develop only MYOPATHY. Asymptomatic patients with putative pathogenic mutations have also been identified. Caused by mutations in the ACADS gene. OMIM: 201470
Date of Entry: 2010/08/25
Revision Date: 2019/06/20

Short chain Acyl CoA dehydrogenase deficiency MeSH Supplementary Concept Data 2024