loading...| Preferred Name |
Medium chain acyl CoA dehydrogenase deficiency |
| Synonyms |
MCADH Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C536038 |
| altLabel |
MCADH Deficiency MCAD Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Medium Chain Acyl-Coa Dehydrogenase Deficiency Acyl-CoA dehydrogenase, medium chain, deficiency of Medium-chain Acyl-CoA dehydrogenase deficiency ACADM Deficiency Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
| cui |
C0220710 |
| Has mapping qualifier | |
| HM |
D042964/Q000172 D008052 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
106 |
| MMR |
20150818 |
| notation |
C536038 |
| prefLabel |
Medium chain acyl CoA dehydrogenase deficiency |
| SC |
3 |
| Scope Statement |
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 |
| TERMUI |
T845989 T738044 T738043 T800684 T826253 T845991 T757617 T841983 T845990 T841982 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |