In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 35, No. 4 ( 2012-07), p. 571-587
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.
Type of Medium:
Online Resource
ISSN:
0141-8955
,
1573-2665
DOI:
10.1007/s10545-012-9462-5
Language:
English
Publisher:
Wiley
Publication Date:
2012
detail.hit.zdb_id:
2006875-X