Abstract
Patients with HGPRT deficiency may be phenotypically classified into two differentiated entities: (a) Lesch-Nyhan syndrome, also named “complete HGPRT deficiency”, characterized by spasticity, choreoathetosis, mental retardation, and self-mutilation behaviour,1 and (b) Kelley-Seegmiller syndrome, also named “partial HGPRT deficiency.”2 Patients with this syndrome could present either mild to severe neurological manifestations including different degrees of spasticity and mental retardation, or no neurological symptoms at all. A differential characteristic between both syndromes is that patients with the Kelley-Seegmiller syndrome do not self-mutilate, although not all patients with the Lesch-Nyhan syndrome exhibit this dramatic manifestation.
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References
Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964; 36: 561–70.
Kelley WN, Greene ML, Rosembloom FM, Henderson JF, Seegmiller JE. Hypoxanthine-guanine phos-phoribosyltransferase deficiency in gout. Ann Intern Med 1969; 70: 155–206.
Emmerson RT, Thompson L. The spectrum of hypoxanthine-guanine phpshoribosyl-transferase deficiency. Quart J Med 1973; 42: 423–40.
Rylance RC, Wallace RC, Nuki G. Hypoxanthine-guanine phosphoribosyltransferase assay using high performance liquid chromatography. Clin Chim Acta 1982; 127: 159–65.
Catel W, Schmidt J. Uber familiäre gichtische diathese in verdendung mit zerebralen und renalem Symptomen bei enem kleinkind. Dtsch Med Wschr 1959; 84: 2145–7.
Puig JG, Mateos FA, Jiménez ML, Ramos TH. Renal excretion of hypoxanthine and xanthine in primary gout. Am J Med 1988; 85: 533–7.
Mateos FA, Puig JG. Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome. J Inner Metab Dis 1994; 17: 138–42.
Bouwens-Rombouts AGM, van den Boogaard, Puig JG, Mateos FA, Hennekam RCM, Tilanus MGJ. Identification of two new nucleotide mutations (HPRT Utrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. Hum Genet 1993; 91: 451–4.
Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN. Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT-Yale) responsible for Lesch-Nyhan syndrome. J Clin Invest 1989; 83: 11–3.
Eads JC, Scapin G, Xu Y, Grubmeyer C, Sacchettini JC. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell 1994; 78: 325–34.
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© 1998 Springer Science+Business Media New York
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Puig, J.G., Torres, R.J., Mateos, F.A., Arcas, J., Buño, A., Pascual-Castroviejo, I. (1998). The Spectrum of HGPRT Deficiency. In: Griesmacher, A., Müller, M.M., Chiba, P. (eds) Purine and Pyrimidine Metabolism in Man IX. Advances in Experimental Medicine and Biology, vol 431. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5381-6_5
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DOI: https://doi.org/10.1007/978-1-4615-5381-6_5
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