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3-hydroxy-3-methylglutaric aciduria

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    • HMG-CoA lyase deficiency
    • Hydroxymethylglutaric aciduria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 246450
  • UMLS: C0268601  C1533587
  • MeSH: -
  • GARD: 8387
  • MedDRA: -
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