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3-hydroxy-3-methylglutaric aciduria

Orpha number ORPHA20
Synonym(s) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hydroxymethylglutaric aciduria
Prevalence Unknown
  • Autosomal recessive
Age of onset Neonatal/infancy
  • E71.1
  • C1533587
MeSH -
MedDRA -
  • 410059004


3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycemia, hypotonia and vomiting triggered by periods of fasting or infections.

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Detailed information

Emergency guidelines
  • EN (2012,pdf)
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