Search Ontology:
Human Disease
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Term ID
- DOID:0070541
- Synonyms
-
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
- HL deficiency
- HMG-CoA lyase deficiency
- HMGCL deficiency
- HMGCLD
- hydroxymethylglutaric aciduria
- Definition
- An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. https://pubmed.ncbi.nlm.nih.gov/3128690/
- References
-
- GARD:8387
- MESH:C538324
- MIM:246450
- NCI:C84523
- ORDO:20
- UMLS_CUI:C0268601
- Ontology
- Human Disease ( DOID:0070541 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models
Citations