Progress in understanding 2-hydroxyglutaric acidurias

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

Open link

Publication date

January 2012

DOI

10.1007/s10545-012-9462-5

Publisher

Springer Science and Business Media LLC

ISSN

0141-8955

Citation count (estimate)

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. ©...