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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 4/2012

Open Access 01-07-2012 | Metabolic Dissertation

Progress in understanding 2-hydroxyglutaric acidurias

Authors: Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs

Published in: Journal of Inherited Metabolic Disease | Issue 4/2012

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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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Metadata
Title
Progress in understanding 2-hydroxyglutaric acidurias
Authors
Martijn Kranendijk
Eduard A. Struys
Gajja S. Salomons
Marjo S. Van der Knaap
Cornelis Jakobs
Publication date
01-07-2012
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 4/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-012-9462-5

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