3-hydroxyisobutyric aciduria (Q86128): Difference between revisions
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Revision as of 11:29, 15 August 2026
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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| English | 3-hydroxyisobutyric aciduria |
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. |
