3-hydroxyisobutyric aciduria (Q86128): Difference between revisions

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Latest 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.

Language	Label	Description	Also known as
default for all languages	ID_1293648631
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.