Details of Disease

General Information of Disease (ID: DISOWT9U)

• Disease Name: 3-hydroxy-3-methylglutaric aciduria
• Synonyms: HMG-Coa lyase deficiency; HMGCLD; HMG CoA lyase deficiency; HL deficiency; defect in leucine metabolism; Hmgcl deficiency; deficiency of hydroxymethylglutaryl-CoA lyase; HMG-CoA lyase deficiency; Hydroxymethylglutaric aciduria; 3-hydroxy-3-methylglutaric aciduria; hydroxymethylglutaryl-CoA lyase deficiency; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; 3-OH 3-Methyl glutaric aciduria
• Definition: 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
• Disease Hierarchy:
  DISCXXVK: Classic organic aciduria
  DISA6JBV: Disorder of fatty acid oxidation and ketogenesis
  DISOWT9U: 3-hydroxy-3-methylglutaric aciduria
• Disease Identifiers:
  MONDO ID: MONDO_0009520
  MESH ID: C538324
  UMLS CUI: C0268601
  OMIM ID: 246450
  MedGen ID: 78692
  Orphanet ID: 20
  SNOMED CT ID: 124611007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HMGCL	OTRO9RII	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.