loading...| Preferred Name |
Short chain Acyl CoA dehydrogenase deficiency |
| Synonyms |
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C537596 |
| altLabel |
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency Acads Deficiency Deficiency of Butyryl-Coa Dehydrogenase Scad Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Scadh Deficiency Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
| cui |
C0342783 |
| Has mapping qualifier | |
| HM |
D042964/Q000172 D008052 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
29 |
| MMR |
20190620 |
| notation |
C537596 |
| prefLabel |
Short chain Acyl CoA dehydrogenase deficiency |
| SC |
3 |
| Scope Statement |
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 |
| TERMUI |
T826115 T801559 T842442 T842443 T842441 T743114 T842445 T842444 T842446 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |