2-hydroxyglutaric aciduria (Q93816)
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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. |
