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, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.

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Aliases

• 2-HGA
• 2-hydroxyglutaric acidemia
• 2-hydroxyglutaric aciduria
• 2-hydroxyglutaric aciduria