3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency

Preferred Label : 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency;

Symbol : HMGCS2D;

CISMeF acronym : HMGCS2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial hmg-coa synthase deficiency; Hmgcs2 deficiency;

Description : Mitochondrial HMG-CoA synthase deficiency is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (Aledo et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene (HMGCS2, 600234.0001);

Laboratory abnormalities : Highly elevated free fatty acids;

Prefixed ID : #605911;

Details

Origin ID

605911;

UMLS CUI

C2751532;

Currated CISMeF NLP mapping
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH concept]
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH concept]
- 3-hydroxy 3-methylglutaryl-CoA lyase deficiency [ICD-11 More detail]
- 3-hydroxy-3 methylglutaryl-CoA lyase deficiency [PASCAL descriptor]
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) [SNOMED CT concept]
- HMG CoA lyase deficiency [Disease (Nov.)]
- HMG-CoA Lyase Deficiency [NCIt concept]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]
Genes related to phenotype
- 3-hydroxy-3-methylglutaryl-coa synthase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Hepatomegaly [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH concept]
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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