Abstract
HGPRT deficiency is inherited in a chromosome X-linked recessive manner (1). Most of heterozygous females are asymtomatic and have normal serum urate concentrations (2). Moreover, HGPRT activity in hemolysate from HGPRT deficient carrier females is usually in the normal range (3). A number of methodologies have been designed for carrier testing in HGPRT deficient families, HGPRT activity in hair follicles, selective medium cultured skin fibroblasts and genetic analysis, being the most widely used. The purpose of this study was to review our experience with carrier diagnoses in 14 Spanish families with HGPRT deficiency by means of enzymatic and genetic tests.
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Pai GS, Sprenke JA, Do TT, Mareni CE, Migeon BR. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of non-random X-chromosome expression from human X-autosomal translocation. Proc Nat Acad Sci USA 1980; 77: 2810–2813.
Rossiter BJF, Caskey CT. Hipoxanthine-guanine phosphoribosyltransferase deficiency:Lesh-Nyhan syndrome and gout. In:Scriver CR, Beaudet AL, Sly WS, Valle D(eds). The Metabolic Basis of Inherited Diseases, 7th de. New York, Mc Graw-Hill, 1995; vol II: 1679–1706.
Migeon BR, Der Kaloustian VM, Nyhan WL, Young WJ, Childs B. X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency:Heterozygote has two clonal populations. Science 1968; 160: 425–527.
Page T, Bakay B, Nyhan WL. An improved procedure for detection of hypoxanthine-guanine phosphoribosyl transferase heterozygotes. Clin Chem 1982; 28: 1181–1184.
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© 1998 Springer Science+Business Media New York
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Torres, R.J., Buño, A., Mateos, F.A., Puig, J.G. (1998). Carrier State in Hgprt Deficiency a Study in 14 Spanish Families. 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_38
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DOI: https://doi.org/10.1007/978-1-4615-5381-6_38
Publisher Name: Springer, Boston, MA
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