Term Name: | L-2-hydroxyglutaric aciduria |
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Synonyms: | L-2-HYDROXYGLUTARIC ACIDEMIA |
Definition: | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). |
Ontology: | Human Disease [DOID:0050574] ( DOID:0050574 ) |