D-glycerate kinase deficiency as a cause of D-glyceric aciduria

FEBS Lett. 1989 Jan 30;243(2):127-31. doi: 10.1016/0014-5793(89)80113-9.


D-Glycerate kinase was measured in human livers thanks to a new, sensitive radiochemical assay. The enzyme was extremely unstable in extracts prepared in water, but was partly stabilized in a homogenization mixture containing inorganic phosphate, D-glycerate and EGTA. When extracted in such a stabilizing mixture, glycerate kinase activity amounted to 0.86 +/- 0.21 U/g in control livers and to 0.03 U/g in the liver of a patient with D-glyceric aciduria. In contrast, D-glycerate dehydrogenase (glyoxylate reductase) and triokinase activities were not deficient in the liver of the same patient. It is concluded that D-glycerate kinase deficiency is a cause of D-glyceric aciduria.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphate / physiology
  • Carbohydrate Metabolism, Inborn Errors / enzymology*
  • Egtazic Acid / pharmacology
  • Female
  • Glyceric Acids / pharmacology
  • Glyceric Acids / urine*
  • Humans
  • In Vitro Techniques
  • Infant
  • Liver / enzymology
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / antagonists & inhibitors
  • Phosphotransferases / deficiency*


  • Glyceric Acids
  • Egtazic Acid
  • glyceric acid
  • Adenosine Triphosphate
  • Phosphotransferases
  • Phosphotransferases (Alcohol Group Acceptor)
  • glycerate kinase