Abstract
The Lesch-Nyhan syndrome is a severe X-chromosomal disease caused by hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Lesch and Nyhan 1964; Seegmiller et al. 1967). HPRT-deficiency leads to increased levels of uric acid in blood and urine with associated clinical manifestation of renal uric acid stones and gouty arthritis, and to neurological disturbances including choreoathetosis, spasticity, compulsive selfmutilation and mental retardation of variable severity. In individuals with partial deficiency of HPRT (Kelley-Seegmiller syndrome) hyperuricemia, nephrolithiasis and gouty arthritis are observed, but they are mostly spared the neurological symptoms.
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Gathof, B.S., Rocchigiani, M., Micheli, V., Gaigl, Z., Gresser, U. (1998). HPRT-Mutations in Italian Lesch-Nyhan Patients. 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_29
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DOI: https://doi.org/10.1007/978-1-4615-5381-6_29
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