2-hydroxyglutaric aciduria (Q93816): Difference between revisions
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| description / pt-br | description / pt-br | ||
A acidúria 2-hidroxiglutárica é um grupo de doenças neurometabólicas com amplo espectro clínico que varia de apresentações neonatais graves e formas progressivas até casos assintomáticos, caracterizadas bioquimicamente por níveis elevados de ácido 2-hidroxiglutárico no plasma, líquido cefalorraquidiano e urina. | |||
| description / en | description / en | ||
2-hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterised biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. | |||
Revision as of 08:55, 16 August 2026
2-hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterised biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_896211058 |
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| English | 2-hydroxyglutaric aciduria |
2-hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterised biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. |
