Abstract
Complete deficiency of HPRT causes the Lesch-Nyhan syndrome (LNS) which is characterized by hyperuricemia, mental retardation, choreoathetosis, and compulsive self-mutilation. Partial deficiency of HPRT leads to a severe form of gout and nephrolithiasis. In contrast to the Lesch-Nyhan syndrome it has been proposed to designate this as Kelley-Seegmiller syndrome, which by this definition should never include autoaggression. In single cases, however, it even seems difficult to make a clearcut decision between the two syndromes. Autoaggressive behaviour may either develop more slowly and with a later onset than in the classical Lesch-Nyhan syndrome and may thus escape an early postnatal diagnosis.
This is a preview of subscription content, log in via an institution to check access.
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
Burgemeister R, Gutensohn W (1989), Normal ranges of the activities of ten different enzymes in 100 independent preparations of chorionic villi. Comparison of specimens from induced abortions, biopsies, and cultured cells, Prenat Diagn 9: 195–204.
Davidson BL, Tarlé SA, Palella TD, Kelley WN (1989), Molecular basis of hypoxanthine-guanine phosphoribosyl-transferase deficiency in ten subjects determined by direct sequencing of amplified transcripts, J Clin Invest 84: 342–346.
Davidson BL, Tarlé SA, van Antwerp M, Gibbs RA, Watts RWE, Kelley WN, Palella TD (1991), Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, Am J Hum Gen 48: 951–958.
Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W (1990), Automated DNA sequencing of the human HPRT locus, Genomics 6: 593–608.
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey TC (1989), Identification of mutations leading to the Lesch-Nyhan-syndrome by automated direct DNA sequencing of in vitro amplified cDNA, Proc Natl Acad Sci (USA) 86: 1919–1923.
Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT (1990), Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families, Genomics 7: 235–244.
Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U (1992), Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests, Hum Genet 89: 395–400.
Tarlé SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD (1991), Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects, Genomics 10: 499–501.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1995 Springer Science+Business Media New York
About this chapter
Cite this chapter
Burgemeister, R., Gutensohn, W., Van den Berghe, G., Jaeken, J. (1995). Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_71
Download citation
DOI: https://doi.org/10.1007/978-1-4615-2584-4_71
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-6105-3
Online ISBN: 978-1-4615-2584-4
eBook Packages: Springer Book Archive