Article
[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000
Saifullina E V, Zakharova E Yu, Kurkina M V, Magzhanov R V, Gaisina E V, Zakirova E N
Abstract excerpt
The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment). The distinctive feature is the specific...
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