Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options

M. I. Yablonskaya, P. V. Novikov, E. G. Agapov, I. V. Zolkina, E. A. Yuryeva, M. N. Kharabadze
2016 Rossijskij Vestnik Perinatologii i Pediatrii  
The rare hereditary diseases encountered in the practice of pediatricians, pediatric neurologists, and geneticists include Lesch—Nyhan syndrome associated with purine metabolic disorders caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT deficiency gives rise to hyperuricemia, hyperuricemic nephropathy, and a CNS lesion reminiscent of dystonic or hyperkinetic infantile cerebral paralysis concurrent with a propensity to have
more » ... oaggressive behavior. The diagnosis is based on a range of history data, characteristic neurological symptoms, the detection of high blood and urine uric acid levels, and the identification of pathogenic mutagens in the HPRT1 gene. Early diagnosis contributes to timely therapy and assists in medical genetic counseling. The paper describes a clinical case of a boy with Lesch-Nyhan syndrome and elucidates the problems of diagnosis and treatment of this disease.
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