Progress in understanding 2-hydroxyglutaric... : Journal of Inherited Metabolic Diseases (original) (raw)

Metabolic Dissertation: PDF Only

• Martijn Kranendijk
• Eduard A. Struys
• Gajja S. Salomons
• Marjo S. Van der Knaap
• Cornelis Jakobs

Journal of Inherited Metabolic Diseases

35

(

4

)

:p

571

-

587

,

July 2012

.

| DOI: 10.1007/s10545-012-9462-5

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.