3-hydroxy 3-methylglutaryl-CoA lyase deficiency

Preferred Label : 3-hydroxy 3-methylglutaryl-CoA lyase deficiency;

ICD-11 definition : 3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycemia, hypotonia and vomiting triggered by periods of fasting or infections.;

ICD-11 synonym : 3-hydroxy 3-methylglutaryl-CoA synthase deficiency; HMG-CoA synthase deficiency; HMG-CoA lyase deficiency;

Details

Origin ID

608791742;

Automatic exact mappings (from CISMeF team)
- Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) [SNOMED CT concept]
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 lyase deficiency [PASCAL descriptor]
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency [ORDO Disease]
- 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency [OMIM Phenotype]
- 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]
See also inter- (CISMeF)
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH concept]
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
- 3-hydroxy-3-methylglutaryl-coa lyase deficiency [OMIM Phenotype]

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