| Metadata | |
|---|---|
| ID | DOID:0070541 |
| Name | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch NCI:C84523 exactMatch ORDO:20 exactMatch UMLS_CUI:C0268601 exactMatch GARD:8387 exactMatch MESH:C538324 exactMatch MIM:246450 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency [EXACT] HL deficiency [RELATED] HMG-CoA lyase deficiency [EXACT] HMGCL deficiency [EXACT] HMGCLD [EXACT] hydroxymethylglutaric aciduria [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |