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- W1516073782 abstract "A second family is described in which there is a partial deficiency of erythrocyte adenine phosphoribosyltransferase (APRT). Eight affected members over three generations appear to be heterozygotes for a defect which is inherited in an autosomal manner. In this family, as in the family reported previously, the level of APRT activity in erythrocytes was considerably less than 50 per cent of normal. The residual APRT activity present in erythrocytes had normal heat stability and a normal half life in vivo. APRT activity was found to be normal in leukocytes and cultured fibroblasts. The partial deficiency of erythrocyte APRT was not associated with any detectable abnormality in purine metabolism. The propositus exhibited a normal concentration of PP-ribose-P and adenosine triphosphate (ATP) in erythrocytes, a normal availability of purine nucleotides, a normal rate of purine biosynthesis de novo, a normal excretion of uric acid and a normal response to adenine administration. Although the propositus has both hyperuricemia and reduced erythrocyte APRT activity, these two traits segregate independently in the family." @default.
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- W1516073782 date "1973-11-01" @default.
- W1516073782 modified "2023-09-26" @default.
- W1516073782 title "Adenine phosphoribosyltransferase deficiency in man" @default.
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- W1516073782 doi "https://doi.org/10.1016/0002-9343(73)90183-6" @default.
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