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A novel mutation as a cause of L-2-hydroxyglutaric aciduria

✍ Scribed by Ged O’Connor; M. King; G. Salomons; C. Jakobs; O. Hardiman


Publisher
Springer
Year
2009
Tongue
English
Weight
192 KB
Volume
256
Category
Article
ISSN
0340-5354

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We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydrox