2-hydroxyglutaric aciduria

Definition

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.

Disease data

Classification

Clinical group

Synonyms

2-hydroxyglutaric acidemia

Kwasica 2-hydroksyglutarowa

ORPHA code

OMIM code

ICD10 code

E72.8

ICD11 code

*Soruce