D-2-hydroxyglutaric aciduria

Orpha code: 79315OMIM code: 613657

Definition

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

Disease data
Classification

Disease

Synonyms
D-2-HGA
D-2-HGA
D-2-kwasica hydroksyglutarowa
D-2-hydroxyglutaric acidemia
ORPHA code
79315
OMIM code
613657
ICD10 code
E72.8
ICD11 code
-

No additional description.

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