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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1749323401 / rank | |||||||||||||||
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CID11:ID_1749323401 | |||||||||||||||
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dki-india-ID_1749323401 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1749323401 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:40, 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. |
Statements
CID11:ID_1749323401
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dki-india-ID_1749323401
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Concluído
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13 August 2026
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