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 )