D-glycerate kinase deficiency as a cause of D-glyceric aciduria.
(1989) FEBS Letters — Vol. 243, n° 2, p. 127-131 (1989)
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- Abstract
- 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.
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Van Schaftingen, E. (1989). D-glycerate kinase deficiency as a cause of D-glyceric aciduria. FEBS Letters, 243(2), 127-131. https://hdl.handle.net/2078.5/35215 (Original work published 1989)