D-glycerate kinase deficiency as a cause of D-glyceric aciduria.
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.
Van Schaftingen
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Laboratoire de Chimie Physiologique, Université Catholique de Louvain, Brussels, Belgium.
D000255:Adenosine Triphosphate / Q000502:physiology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D004533:Egtazic Acid / Q000494:pharmacology; D005260:Female; D005988:Glyceric Acids / Q000494:pharmacology / Q000652:urine*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008099:Liver / Q000201:enzymology; D010770:Phosphotransferases / Q000037:antagonists & inhibitors / Q000172:deficiency*; D017853:Phosphotransferases (Alcohol Group Acceptor)
D005988:Glyceric Acids; D004533:Egtazic Acid; C042971:glyceric acid; D000255:Adenosine Triphosphate; D010770:Phosphotransferases; D017853:Phosphotransferases (Alcohol Group Acceptor); C020670:glycerate kinase