About   Help   FAQ
Disease Ontology Browser
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (DOID:0070541)
Alliance: disease page
Synonyms: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency; HL deficiency; HMG-CoA lyase deficiency; HMGCL deficiency; HMGCLD; hydroxymethylglutaric aciduria
Alt IDs: OMIM:246450, MESH:C538324, NCI:C84523, ORDO:20, UMLS_CUI:C0268601
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory