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3-hydroxyisobutyric aciduria

Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
  • E71.1
  • C0342737
  • C535312
MedDRA -


Disease definition

3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.

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