Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria

Clin Chem. 1989 Oct;35(10):2148-51.

Abstract

During organic acid screening by gas chromatography/mass spectrometry, we detected a large peak corresponding to glyceric acid in a patient's urine sample. The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.29). We biochemically investigated this fifth reported case of D-glyceric acidemia. In our patient, loading tests with L-serine and fructose led to an increase of D-glyceric acid in both plasma and urine. Determination of other metabolites involved in D-glycerate metabolism revealed no abnormality in any sample examined. After comparing all our results with those of the preceding observations described in the literature, we suggest a possible enzymatic defect located on one of the metabolic pathways shared by fructose and L-serine, possibly at the level of hepatic D-glycerate kinase (EC 2.7.1.31). Nevertheless, a primary defect of L-serine catabolism cannot be entirely excluded.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chemical Phenomena
  • Chemistry
  • Female
  • Fructose
  • Gas Chromatography-Mass Spectrometry
  • Glyceric Acids / metabolism
  • Glyceric Acids / urine*
  • Humans
  • Indicators and Reagents
  • Infant
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / urine
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / metabolism*
  • Serine

Substances

  • Glyceric Acids
  • Indicators and Reagents
  • Fructose
  • Serine
  • glyceric acid
  • Phosphotransferases
  • Phosphotransferases (Alcohol Group Acceptor)
  • glycerate kinase