2-гідроксиглутарова ацидурія
ORPHA:19· 2-hydroxyglutaric aciduria
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Childhood