3-hydroxy-3-methylglutaryl-coa lyase deficiency

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

Symbol : HMGCLD;

CISMeF acronym : HMGCLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hl deficiency; Hydroxymethylglutaric aciduria; Hmg-coa lyase deficiency; Hmgcl deficiency;

Description : 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, which include 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-hydroxy-3-methylglutaryl-Coenzyme A lyase gene (HMGCL, 613898.0001);

Laboratory abnormalities : Hypoglycemia; Increased anion gap; Hyperuricemia; Acidosis; Elevated lactate level; Hyperammonemia; Elevated transaminase activity;

Prefixed ID : #246450;

Details

Origin ID

246450;

UMLS CUI

C0268601;

Automatic exact mappings (from CISMeF team)
- Hydroxymethylglutaric aciduria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-hydroxy-3-methylglutaric aciduria [ICD-11 More detail]
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
- 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 [LOINC component]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]
Genes related to phenotype
- 3-hydroxy-3-methylglutaryl-coa lyase [OMIM gene]
HPO term(s)
- 3-Methylglutaric aciduria [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Anemia [HPO term]
- Apathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Death in childhood [HPO term]
- Decreased plasma carnitine [HPO term]
- Decreased prothrombin time [HPO term]
- EEG abnormality [HPO term]
- Early death [HPO term]
- Excessive daytime somnolence [HPO term]
- Fever [HPO term]
- Global developmental delay [HPO term]
- Glutaric aciduria [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperuricemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased level of 3-hydroxy-3-methylglutaric acid in urine [HPO term]
- Increased level of hippuric acid in urine [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Organic aciduria [HPO term]
- Pallor [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Ketonuria [HPO term]
ORDO concept(s)
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
See also inter- (CISMeF)
- 3-hydroxy 3-methylglutaryl-CoA lyase deficiency [ICD-11 More detail]
- hepatic lipase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-hydroxy-3-methylglutaric aciduria [ORDO Disease]
- 3-hydroxy-3-methylglutaric aciduria [ICD-11 More detail]
- 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 [LOINC component]
- hydroxymethylglutaryl-coa lyase deficiency [SNOMED Notion]

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