Methylmalonyl-CoA epimerase deficiency

Preferred Label : Methylmalonyl-CoA epimerase deficiency;

ICD-11 definition : This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function.;

ICD-11 synonym : Methylmalonyl-CoA racemase deficiency;

Details

Origin ID

1326188987;

UMLS CUI

C1855100;

Currated CISMeF NLP mapping
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [ORDO Disease]
- Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) [SNOMED CT concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH Supplementary Concept]
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]
See also inter- (CISMeF)
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [ORDO Disease]
- Methylmalonyl-CoA epimerase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH Supplementary Concept]
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]

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