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Short chain Acyl CoA dehydrogenase deficiency MeSH Supplementary Concept Data 2025


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 Numbers
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 Preferred
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