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3-hydroxyisobutyric aciduria
rare3 hydroxyisobutyric aciduria is characterized 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.
- Identifiers
- MONDO:0009371 OMIM:236795Orphanet:939
- Part of
- Classic organic aciduria
- Also known as
- disorder of valine metabolism
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