Methylmalonyl-coa epimerase deficiency

Preferred Label : Methylmalonyl-coa epimerase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonyl-coa racemase deficiency; Methylmalonic aciduria III;

Included titles and symbols : Methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methylmalonyl-CoA epimerase gene (MCEE, 608419.0001);

Laboratory abnormalities : Methylmalonic aciduria, mild; Normal plasma total homocysteine; Elevated plasma propionylcarnitine; Ketonuria; Normal B12;

Prefixed ID : #251120;

Détails

Origin ID

251120;

UMLS CUI

C1855100;

Automatic exact mappings (from CISMeF team)
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [ICD-11 More detail]
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH Supplementary Concept]
- Methylmalonyl-Coenzyme A mutase deficiency [MeSH Supplementary Concept]
CISMeF manual mappings
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) [SNOMED CT concept]
- Methylmalonyl-CoA epimerase deficiency [ICD-11 More detail]
- Methylmalonyl-CoA epimerase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Methylmalonyl-coa epimerase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Elevated circulating palmitoleylcarnitine concentration [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Hyperhomocystinemia [HPO term]
- Infantile onset [HPO term]
- Ketonuria [HPO term]
- Metabolic acidosis [HPO term]
- Methylmalonic aciduria [HPO term]
- Motor delay [HPO term]
- Spasticity [HPO term]
Matching ORDO disease(s)
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
ORDO concept(s)
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [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 Supplementary Concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency [ICD-11 More detail]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
Validated automatic mappings to BTNT
- Partial deficiency of methylmalonyl-CoA mutase [ICD-11 More detail]

Position du mot-clé dans l'(les) arborescence(s) :

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