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2-hydroxyglutaric aciduria

rare

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.

Identifiers
MONDO:0016001 Orphanet:19
Part of
Hereditary neurological diseaseInborn errors of metabolism
Also known as
2-HGA · 2-hydroxyglutaric acidemia

Subtypes

All diseases Rare only
Disease Subtypes
D-2-hydroxyglutaric aciduria 2
D,L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria

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