L-2-hydroxyglutaric aciduria

Definition:

L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy.

References:

[1]. L Vilarinho, et al. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005 Oct;26(4):395-6. [Content Brief]

[2]. Meral Topçu, et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. [Content Brief]

[3]. Rim Rzem, et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. [Content Brief]

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