Glutaric aciduria type 1 (Q64120): Difference between revisions
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A acidemia glutárica tipo 1 é um erro inato do metabolismo da lisina e do triptofano devida à deficiência de glutaril-coenzima A (CoA) desidrogenase. É caracterizada clinicamente por uma encefalopatia aguda que resulta em dano estriatal bilateral levando a um distúrbio de movimento discinético distônico grave. | |||
| description / en | description / en | ||
Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder. | |||
Revision as of 11:39, 14 August 2026
Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1749323401 |
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| English | Glutaric aciduria type 1 |
Glutaric acidemia type 1 is an inborn error of lysine and triptophan metabolism due to glutaryl-Coenzyme A (CoA) dehydrogenase deficiency clinically characterised by a acute encephalopathy that results in bilateral striatal damage leading to a severe dystonic dyskinetic movement disorder. |
