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3-hydroxyisobutyric aciduria

ORPHA939
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E71.1
OMIM
UMLS
  • C0342737
MeSH
  • C535312
MedDRA -

Summary

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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Detailed information

Article for general public
  • ES (2011,pdf)
  • FR (2011,pdf)
  • NL (2011,pdf)
  • EN (2011,pdf)
  • PT (2011,pdf)
  • IT (2011,pdf)
  • DE (2011,pdf)
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