3-hydroxyisobutyric aciduria (Q86128): Difference between revisions
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A acidúria 3-hidroxi-isobutírica é caracterizada por episódios cetoacidóticos, anomalias cerebrais e dismorfismo facial. É uma acidúria orgânica que envolve o metabolismo da valina. Treze casos foram descritos na literatura até o momento. A transmissão é considerada autossômica recessiva. | |||
| description / en | description / en | ||
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. | |||
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 |
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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. |
