2-hydroxyglutaric aciduria

MONDO:0016001

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.

Also known as: 2-hydroxyglutaric acidemia, 2-hydroxyglutaric aciduria, 2-HGA

1 clinical trial for this condition and its sub-types, 0 tagged with 2-hydroxyglutaric aciduria itself.

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Where it sits in the disease tree

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↑ Hereditary neurological disease (5772) ↑ Inborn errors of metabolism (2228)

Sub-types of 2-hydroxyglutaric aciduria

D,L-2-hydroxyglutaric aciduria 1 trial
D-2-hydroxyglutaric aciduria 0 trials
2 sub-types
- D-2-hydroxyglutaric aciduria 1 0 trials
- D-2-hydroxyglutaric aciduria 2 0 trials
L-2-hydroxyglutaric aciduria 0 trials

Including sub-types (1) Tagged with 2-hydroxyglutaric aciduria (0)

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