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.
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0100545
hereditary neurological disease
is_a
2-HGA
related
2-hydroxyglutaric acidemia
exact
2-hydroxyglutaric aciduria
exact
SPBC713.03 SPAC6G10.08 SPAC19G12.05