Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) Deficiency: Immunologic Studies on the Mutant Enzyme
The Lesch-Nyhan syndrome is a bizarre, X-linked disease characterized by spasticity, choreoathetosis, self-mutilation, mental and growth retardation as well as hyperuricemia and hyperuricaciduria (Lesch and Nyhan,1964) which is due to a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in all tissues of affected individuals (Seegmiller, Rosenbloom and Kelley, 1967; Rosenbloom, et al., 1967). We have examined hemolysates from 14 patients and autopsy tissue from one patient with the Lesch-Nyhan syndrome for their content of HGPRT activity and immunologically detectable HGPRT enzyme protein by using a monospecific rabbit antiserum prepared against a homogeneous preparation of normal human HGPRT (Arnold, Meade and Kelley, 1972).
KeywordsMutant Enzyme Normal Enzyme Normal Erythrocyte Striking Reduction HGPRT Activity
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- Kelley, W.N. and Arnold, W.J. Human hypoxanthine-guanine phosphoribosyltransferase: Studies on the normal and mutant forms of the enzyme. Fed. Proc. (in press).Google Scholar