3-hydroxyisobutyric aciduria (Q86128)
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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. |
Statements
CID11:ID_1293648631
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dki-india-ID_1293648631
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Concluído
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13 August 2026
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