L-2-hydroxyglutaric aciduria

Orpha code: 79314OMIM code: 236792

Definition

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

Disease data
Classification

Disease

Synonyms
L-2-HGA
L-2-HGA
L-2-kwasica hydroksyglutarowa
L-2-hydroxyglutaric acidemia
ORPHA code
79314
OMIM code
236792
ICD10 code
E72.8
ICD11 code
-

No additional description.

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