Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17.

Abstract

Employing lymphoblasts derived from two non related patients with L-2-HG aciduria, we examined the origin of L-2-hydroxyglutaric acid (L-2-HG) through incubation with [(13)C6]glucose and [(2)H5]glutamic acid. Formation of labelled 2-ketoglutaric acid (2-KG), citric acid and L-2-HG was determined by GC-MS. The quantitative and qualitative isotopomer pattern following incubation with [(13)C6]glucose was identical for all end-products. Incubations with [(2)H5]glutamic acid as precursor revealed the formation of identical isotopomers for 2-KG and L-2-HG. Our data indicate that 2-KG is the metabolic precursor of L-2-HG, adding to previous studies which revealed that 2-KG is the metabolic precursor of D-2-HG. These data suggest that 2-KG has a pathophysiological role in combined D/L-2-HG aciduria.

MeSH terms

  • Alcohol Oxidoreductases / deficiency
  • Alcohol Oxidoreductases / genetics
  • Alcohol Oxidoreductases / metabolism*
  • Carbon Isotopes
  • Cell Line
  • Citric Acid / metabolism
  • Deuterium
  • Gas Chromatography-Mass Spectrometry
  • Glucose / metabolism
  • Glutamic Acid / metabolism
  • Glutarates / metabolism*
  • Glutarates / urine
  • Humans
  • Ketoglutaric Acids / metabolism*
  • Lymphocytes / enzymology
  • Lymphocytes / metabolism*
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism*
  • Oxidation-Reduction

Substances

  • Carbon Isotopes
  • Glutarates
  • Ketoglutaric Acids
  • alpha-hydroxyglutarate
  • Citric Acid
  • Glutamic Acid
  • Deuterium
  • Alcohol Oxidoreductases
  • L2HGDH protein, human
  • Glucose