Progress in understanding 2-hydroxyglutaric acidurias

  • J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5.
Martijn Kranendijk  1 ,  Eduard A Struys ,  Gajja S Salomons ,  Marjo S Van der Knaap ,  Cornelis Jakobs
Affiliations
  • 1. Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
PMID: 22391998 DOI: 10.1007/s10545-012-9462-5
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.

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