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
Ontology
Human Disease   ( DOID:0070541 )
Relationships
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Genes Involved
Zebrafish Models