L-2-hydroxyglutaric aciduria, a defect of metabolite repair

J Inherit Metab Dis. 2007 Oct;30(5):681-9. doi: 10.1007/s10545-007-0487-0. Epub 2007 Jun 21.

Abstract

L-2-hydroxyglutaric aciduria is a metabolic disorder in which L-2-hydroxyglutarate accumulates as a result of a deficiency in FAD-linked L-2-hydroxyglutarate dehydrogenase, a mitochondrial enzyme converting L-2-hydroxyglutarate to alpha-ketoglutarate. The origin of the L-2-hydroxyglutarate, which accumulates in this disorder, is presently unknown. The oxidation-reduction potential of the 2-hydroxyglutarate/alpha-ketoglutarate couple is such that L-2-hydroxyglutarate could potentially be produced through the reduction of alpha-ketoglutarate by a NAD- or NADP-linked oxidoreductase. In fractions of rat liver cytosolic extracts that had been chromatographed on an anion exchanger we detected an enzyme reducing alpha-ketoglutarate in the presence of NADH. This enzyme co-purified with cytosolic L-malate dehydrogenase (cMDH) upon further chromatography on Blue Sepharose. Mitochondrial fractions also contained an NADH-linked, 'alpha-ketoglutarate reductase', which similarly co-purified with mitochondrial L-malate dehydrogenase (mMDH). Purified mMDH catalysed the reduction of alpha-ketoglutarate to L-2-hydroxyglutarate with a catalytic efficiency that was about 10(7)-fold lower than that observed with oxaloacetate. For the cytosolic enzyme, this ratio amounted to 10(8), indicating that this enzyme is more specific. Both cMDH and mMDH are highly active in tissues and alpha-ketoglutarate is much more abundant than oxaloacetate and more concentrated in mitochondria than in the cytosol. As a result of this, the weak activity of mMDH on alpha-ketoglutarate is sufficient to account for the amount of L-2-hydroxyglutarate that is excreted by patients deficient in FAD-linked L-2-hydroxyglutarate dehydrogenase. The latter enzyme appears, therefore, to be responsible for a 'metabolite repair' phenomenon and to belong to the expanding class of 'house-cleaning' enzymes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcohol Oxidoreductases / deficiency
  • Alcohol Oxidoreductases / genetics
  • Alcohol Oxidoreductases / metabolism*
  • Animals
  • Cell Line
  • Cytosol / enzymology
  • Cytosol / metabolism
  • Glutarates / metabolism*
  • Glutarates / urine
  • Humans
  • In Vitro Techniques
  • Ketoglutaric Acids / metabolism*
  • Kinetics
  • Liver / enzymology
  • Liver / metabolism*
  • Malate Dehydrogenase / genetics
  • Malate Dehydrogenase / metabolism*
  • Male
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism*
  • Mitochondria, Liver / enzymology
  • Mitochondria, Liver / metabolism
  • Oxidation-Reduction
  • Rats
  • Rats, Wistar
  • Recombinant Proteins / metabolism
  • Swine
  • Transfection

Substances

  • Glutarates
  • Ketoglutaric Acids
  • Recombinant Proteins
  • alpha-hydroxyglutarate
  • Alcohol Oxidoreductases
  • Malate Dehydrogenase
  • 2-hydroxyglutarate dehydrogenase