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Progress in understanding 2‐hydroxyglutaric acidurias
Author(s) -
Kranendijk Martijn,
Struys Eduard A.,
Salomons Gajja S.,
Van der Knaap Marjo S.,
Jakobs Cornelis
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-012-9462-5
Subject(s) - medicine
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.