3-hydroxyisobutyric aciduria

MONDO:0009371

3 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.

Also known as: 3-hydroxyisobutyric aciduria, disorder of valine metabolism

0 clinical trials for this condition and its sub-types, 0 tagged with 3-hydroxyisobutyric aciduria itself.

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↑ Classic organic aciduria (20) ↑ Inborn disorder of branched-chain amino acid metabolism (4) ↑ Valine metabolism disease (0)

Including sub-types (0) Tagged with 3-hydroxyisobutyric aciduria (0)

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