Abstract
Since the discovery that a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) was responsible for the Lesch-Nyhan syndrome (1, 2), a number of HPRT-deficient patients with greatly varying phenotypes have been reported. These have included patients with the classic Lesch-Nyhan syndrome, those with the neurological manifestations and normal intelligence, and those with uric acid overproduction and its consequences as their only clinical symptoms. In 1981 we reported that an inverse correlation exists between HPRT activity and the severity of the accompanying symptoms, if the enzyme activity is measured in intact cells (3). We have now studied many more patients by this method and have a better idea of the degree of enzyme deficiency at which the various symptoms appear. In the course of these studies, two new phenotypes of HPRT deficiency have been identified, and in each case the degree of HPRT deficiency found in these patients appears to be appropriate for the respective phenotype.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
M. Lesch and W. L. Nyhan, A familial disorder of uric acid metabolism and central nervous system function, Am. J. Med. 36: 561 (1964)
J. E. Seegmiller, F. M. Rosenbloom, and W. N. Kelley, Enzyme deficit associated with a sex-linked human neurological disorder and excessive purine synthesis, Science 155: 1682 (1967)
T. Page, B. Bakay, E. Nissinen, and W.L. Nyhan, Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity, J. Inher. Metab. Dis. 4: 203 (1981)
T. Page, R. L. Broock, W. L. Nyhan and L. H. Nieto, Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase, Clin. Chim. Acta 154: 195 (1986)
L. H. Nieto, W. D. Nyhan, T. Page, G. C. Ferreira, M. R. Fernandez, T. G. Garcia, A. C. de Leon, and J. S. Fernandez, Sindrome de Lesch-Nyhan: nueva variante con actividad de hipoxantina-guanina fosforribosil trans-ferasa (HPRT) superior a la de la enfermedad clasica y deteccion del rasgo heterocigoto en los hematies de la portadora, Med. Clin. 84: 68 (1985)
T. Page, W. L. Nyhan, and V. M. de Vega, Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypo-xanthine-guanine phosphoribosyltransferase, Pediatrics 79: 713 (1987)
J. H. Hersh, T. Page, M. E. Hand, J. E. Seegmiller, W. L. Nyhan, and B. Weisskopf, Clinical correlations in partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Pediatr. Neuro. 2: 302 (1986)
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1989 Plenum Press, New York
About this chapter
Cite this chapter
Page, T., Nyhan, W.L. (1989). The Spectrum of HPRT Deficiency: An Update. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_20
Download citation
DOI: https://doi.org/10.1007/978-1-4684-5673-8_20
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-5675-2
Online ISBN: 978-1-4684-5673-8
eBook Packages: Springer Book Archive