Progress in understanding 2-hydroxyglutaric acidurias

M. Kranendijk, E.A. Struijs, G.S. Salomons, M.S. van der Knaap, C.A.J.M. Jakobs

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    The organic acidurias D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of D-2-hydroxyglutarate (D-2-HG) and/or L-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires. © The Author(s) 2012.
    Original languageEnglish
    Pages (from-to)571-587
    JournalJournal of Inherited Metabolic Disease
    Volume35
    Issue number4
    DOIs
    Publication statusPublished - 2012

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