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2-Hydroxyglutaricaciduria : ウィキペディア英語版 | 2-Hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a group of rare neurometabolic disorders characterized by the significantly elevated levels of hydroxyglutaric acid in ones urine. It is either autosomal recessive or autosomal dominant. ==Classification==
2-hydroxyglutaric aciduria is an organic aciduria, and because of the stereoisomeric property of 2-hydroxyglutarate different variants of this disorder are distinguished:
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