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October 1985

Molecular Genetics of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Man

Author Affiliations

From the Departments of Internal Medicine and Biological Chemistry, University of Michigan Medical School, Ann Arbor. Dr Wilson is now with Massachusetts General Hospital, Boston.

Arch Intern Med. 1985;145(10):1895-1900. doi:10.1001/archinte.1985.00360100165027

Hypoxanthine - guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that plays a key role in the regulation of purine metabolism in man. Interest in this X-linked enzyme stems, in part, from the existence of two clinical syndromes associated with deficiency of HPRT enzyme activity. In 1967, Seegmiller et al1 described a virtually complete deficiency of HPRT activity in patients with the Lesch-Nyhan syndrome. This syndrome is characterized by an overproduction of uric acid as well as a bizarre constellation of neurologic and behavioral abnormalities, including mental retardation, spasticity, choreoathetosis, and a compulsive form of self-mutilation. A partial deficiency of HPRT was subsequently demonstrated in several male patients who presented with hyperuricemia and a severe form of gout at an early age.2 This latter group of patients is usually free of the central nervous system manifestations that characterize the Lesch-Nyhan syndrome, although an occasional patient with partial HPRT deficiency

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