3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Summary

DOID:0070541 - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Disease Ontology 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.

Synonyms: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, HL deficiency, HMGCLD, HMGCL deficiency, HMG-CoA lyase deficiency, hydroxymethylglutaric aciduria

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)