Short chain Acyl CoA dehydrogenase deficiency

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

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Short chain Acyl CoA dehydrogenase deficiency: 115
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Short chain Acyl CoA dehydrogenase deficiency: 115
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Short chain Acyl CoA dehydrogenase deficiency: 115
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxidoreductases Acting on CH-CH Group Donors
      - Acyl-CoA Dehydrogenases: 26
        Acyl-CoA Dehydrogenase: 385
        Short chain Acyl CoA dehydrogenase deficiency: 115
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Flavoproteins: 234
    - Acyl-CoA Dehydrogenase: 385
      - Short chain Acyl CoA dehydrogenase deficiency: 115

Arthur F Hagar Selected Research

Arthur F Hagar Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure