title: Progress in understanding 2-hydroxyglutaric acidurias.
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.
authors.affiliation: Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Martijn
authors.initials: M
authors.lastname: Kranendijk
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Marjo S
authors.initials: MS
authors.lastname: Van der Knaap
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology