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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II.

We determined the optical isomer of the 2-hydroxyglutaric acid (2HG) that was elevated in the urine of five Japanese children with a mild form of glutaric aciduria type II (GA2), caused by a deficiency of electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO). The D- and L-enantiomers of 2HG were separated by capillary gas chromatography with a combination of (S)-(+)-2-octanol derivatization and chromatography on a DB-1 column. The isomer that was elevated in GA2 patients was predominantly the D-enantiomer, an observation that may serve as an additional marker for the biochemical diagnosis of GA2. D-2HG dehydrogenation, but not L-2HG dehydrogenation is apparently blocked in GA2. A specific D-2HG dehydrogenase or D-2HG-CoA dehydrogenase may be metabolically linked to ETF and ETF-QO in the mitochondria.[1]

References

  1. Identification of the D-enantiomer of 2-hydroxyglutaric acid in glutaric aciduria type II. Watanabe, H., Yamaguchi, S., Saiki, K., Shimizu, N., Fukao, T., Kondo, N., Orii, T. Clin. Chim. Acta (1995) [Pubmed]
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