Abstract
A patient having been treated by hemodialysis because of gouty nephropathy since 1973 was diagnosed to have partial HPRT deficiency (19 nmol/mg proteinxh in hemolysate) in 1978. His grandson presented with acut renal failure at the age of 3 weeks in 1982. After an initial value of 31 nmol/ mgxh after previous transfusion his enzyme activity consistently was below 1 nmol/mgxh. Intact red cell studies revealed a twofold activity in the propositus compared with his grandson (12.2 and 6.4 nmol/ml packed cells per h). In lysates of cultured fibroblasts both patients showed the same activity (0.8 nmol/mgxh). In both patients kinetic studies of the enzyme gave normal results and heat inactivation showed it to be more labile than normal controls.
From family studies as well as activity in cultured fibroblasts it can be concluded that both patients inherited the same enzyme defect. Comparing the results in these two patients the twofold activity in intact red cells of the propositus can be attributed to a shortened half-life of his erythrocytes, whereas the fortyfold increase (range 20-60) in hemolysate is unexplained.
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Löffler, W., Wingen, AM., Reiter, S. et al. UNPROPORTIONAL INCREASE IN HEMOLYSATE OF THE ACTIVITY OF A MUTANT HPRT DURING HEMODIALYSIS: 112. Pediatr Res 19, 762 (1985). https://doi.org/10.1203/00006450-198507000-00132
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DOI: https://doi.org/10.1203/00006450-198507000-00132