DECREASED S-ADENOSYLHOMOCYSTEINE HYDROLASE IN INBORN-ERRORS OF PURINE METABOLISM

  • 1 January 1980
    • journal article
    • research article
    • Vol. 96  (1) , 141-147
Abstract
A deficiency of erythrocyte S-adenosylhomocysteine hydrolase was confirmed in 3 patients with adenosine deaminase deficiency [the cause of severe combined immunodeficiency]. Erythrocyte S-adenosylhomocysteine hydrolase activity was decreased by 85% in 3 patients with purine nucleoside phosphorylase deficiency and by 57% in 15 patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Cultured diploid fibroblasts from these patients were normal. Besides deoxyadenosine, no compound known to accumulate in these disorders caused S-adenosylhomocysteine hydrolase inactivation. S-adenosylhomocysteine hydrolase had a normal half-life in the erythrocytes from 2 patients with Lesch-Nyhan syndrome. A secondary deficiency of S-adenosylhomocysteine hydrolase may accompany a number of inborn errors of purine metabolism. Whether this enzyme deficiency contributes to the molecular pathology of these diseases is not known.

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