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Article

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.

Journal of inherited metabolic disease - 1 Feb 2006

Struys Eduard A

Abstract excerpt

D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. In the following years, it became clear that the clinical phenotype of the disease varies widely from severe neonatal to asymptomatic. However, the sparse biochemical knowledge made D-2-HGA a poorly understood disease. Much progress has been made in the last five years in various studies, revealing two human...

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Identifiers

PMID: 16601864
DOI: 10.1007/s10545-006-0317-9

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Source receipt: pubmed, retrieved 7 Sept 2026.

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