Molecular Genetics of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Man

James M. Wilson, MD, PhD; William N. Kelley, MD
Arch Intern Med. 1985;145(10):1895-1900. doi:10.1001/archinte.1985.00360100165027.
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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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