Abstract
In hypoxanthine-guanine phosphoribosyltransferase (E.C 2.4.2.8, HGPRT) deficiency1,2 the clinical manifestations usually parallel the amount of residual enzyme. Thus, patients with the full Lesch-Nyhan syndrome, including mental retardation, athetosis, hypotonia and compulsive self-mutilation, show no detectable enzyme (<0.01 nmol/mg protein/h), whilst those presenting as adult gout usually show low but detectable levels of enzyme.1,2 However, patients with severe neurological defects and detectable levels of enzyme have been described,2 as well as at least twelve patients whose red cell lysates lacked enzyme (<0.1 nmol/mg protein/h) but who were neurologically intact.3–8 We describe a patient who presented initially with acute renal failure, without any neurological manifestations and later developed tophaceous gout. Erythrocyte lysates demonstrated almost undetectable levels of HGPRT activity.
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References
W. N. Kelley, J. B. Wyngaarden. The Lesch-Nyhan Syndrome. In: The Metabolic Basis of Inherited Disease. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, eds., McGraw-Hill Book Co., New York. 4th edition, p. 1011 (1978).
C. H. M. M. de Bruyn. Hypoxanthine guanine phosphoribosyl-transferase deficiency. Hum.Genet, 31: 127 (1976).
W. N. Kelley, M. L. Greene, F. M. Rosenbloom, J. F. Henderson, J. E. Seegmiller. Hypoxanthine-guanine phosphoribosyltrans-ferase deficiency in gout. Ann.Intern.Med., 70: 165 (1969).
B. T. Emmerson, L. Thompson. The spectrum of hypoxanthine-guanine phosphoribosyl transferase deficiency. Quart.J.Med., 42: 423 (1973).
J. Dancis, L. C. Yip, R. P. Cox, S. Piomelli, M. E. Balis. Disparate enzyme activity in erythrocytes and leucocytes; a variant of hypoxanthine-guanine phosphoribosyl transferase deficiency with an unstable enzyme. J.Clin.Invest., 52: 206 (1973).
R. A. Geerdink, W. H. M. de Vries, J. Willemse, T. L. Oei, C. H. M. M. de Bruyn. An atypical case of hypoxanthineguanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) I. Clinical Studies. Clin.Genet., 40: 348 (1973).
D. N. Buss, I. K. Moss, A. Nicholls, J. T. Scott, M. L. Smith, M. R. Watson. Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyl transferase deficiency. Ann.Rheum.Dis., 34: 249 (1975).
B. Bakay, E. Nissenen, L. Sweetman, U. Francke, W. L. Nyhan. Utilisation of purines by an HGPRT variant in an intelligent, non-mutilative patient with features of the Lesch-Nyhan syndrome. Pediatr.Res., 113: 1365 (1979).
H. A. Simmonds, A. R. Watson, D. R. Webster, A. Sahota, D. Perrett. GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency. Biochem Pharmac. 31: 941 (1982).
J. M. Wilson, B. W. Baugher, P. M. Mattes, P. E. Daddona, W. N. Kelley. Human hypoxanthine-guanine phosphoribosyltransferase. Cells derived from patients with a deficiency of the enzyme. J.Clin.Invest., 69: 706 (1982).
R. W. E. Watts, E. Spellacy, D. A. Gibbs, J. Allsop, R. O. McKeran, G. E. Slavin. Clinical, post mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Quart.J.Med. 51: 43 (1982).
O. Sperling, G. Eilam, R. Schmidt, G. Mundel, A. de Vries. Purine hypoxanthine-guanine phosphoribosyl transferase deficiency. Biochem.Med., 5: 173 (1971).
T. Page, B. Bakey, E. Nissinen, W. L. Nyhan. Hypoxanthine-guanine phosphoribosyl transferase variants: correlation of clinical phenotype with enzyme activity. J.Inher.Metab.Dis., 4: 203 (1981).
L. B. Sorensen. Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. J.Clin.Invest., 49, 968 (1970).
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© 1984 Plenum Press, New York
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Cameron, J.S., Simmonds, H.A., Webster, D.R., Wass, V., Sahota, A. (1984). Problems of Diagnosis in an Adolescent with Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency and Acute Renal Failure. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4553-4_2
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DOI: https://doi.org/10.1007/978-1-4684-4553-4_2
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