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3-hydroxy-3-methylglutaric aciduria

Disease definition

A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.


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: All ages
  • ICD-10: E71.1
  • OMIM: 246450
  • UMLS: C0268601  C1533587
  • MeSH: -
  • GARD: 8387
  • MedDRA: -
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