| Literature DB >> 6201351 |
A Fattal, Z Spirer, E Zoref-Shani, O Sperling.
Abstract
The activity and kinetic properties of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) were studied in fibroblasts from a Lesch-Nyhan syndrome (LNS) variant, with complete HGPRT deficiency in hemolysates, but with attenuated behavioral manifestation of the syndrome. The mutant HGPRT exhibited a 100-fold increase in Km for substrate phosphoribosyl-pyrophosphate, manifest in markedly decreased enzyme activity, being 2.5% of normal in cell extracts and about 0.6% of normal in intact cells. This degree of residual activity of the mutant enzyme is within the range found in patients with classical LNS.Entities:
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Year: 1984 PMID： 6201351
Source DB: PubMed Journal: Enzyme ISSN： 0013-9432