Methylmalonate semialdehyde dehydrogenase deficiency (Q86135): Difference between revisions
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Refere-se à deficiência de uma enzima que em humanos é codificada pelo gene ALDH6A1. Esta proteína pertence à família de proteínas aldeído desidrogenases. Esta enzima desempenha um papel nas vias catabólicas da valina e da pirimidina. | |||||||||||||||
| description / en | description / en | ||||||||||||||
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1700759193 / rank | |||||||||||||||
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CID11:ID_1700759193 | |||||||||||||||
| Property / CURIE: CID11:ID_1700759193 / rank | |||||||||||||||
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dki-india-ID_1700759193 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1700759193 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| 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 11:30, 15 August 2026
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1700759193 |
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| English | Methylmalonate semialdehyde dehydrogenase deficiency |
This refers to a deficiency in an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. |
Statements
CID11:ID_1700759193
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dki-india-ID_1700759193
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Concluído
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13 August 2026
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