Lesch-Nyhan sendromu
Juvenil gut
Kalıtsal - XLR
Enzim defekti
İlk bulgular 1 yaşından sonra belirir
Erkek çocuklarda daha sık
İlk bulgular nörolojik (distoni, koreoatetoz, opistotonos)
Spastik serebral paralizi
Hiperürisemi ve gut artriti
Beyinde ürik asid kristalleri ve erimeler
Böbreklerde ürik asid nefropatisi
Üriner taşlar ve hematüri
Testis atrofisi
Beyaz maddede demyelinizasyon
Psikomotor gerilik
Hipotoni (çoğu yürüyemez)
Konuşmada gecikme/zorlanma
Koreoatetoz
Beslenme bozukluğu
Gelişme geriliği
Megaloblastik anemi
Düzensiz ateş
Self-destrüksiyon (dudaklar, yanaklar, parmaklar)
Süt dişlerinde mine hipoplazisi
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Lee JH, Berkowitz RJ, Choi B. Oral self-mutilation in the Lesch-Nyhan syndrome. ASDC Journal of Dentistry for Children, 69:66–69, 2002
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Robey KL, Reck JF, Giacomini KD, Barabas G, Eddey GE. Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease. Developmental Medicine & Child Neurology, 45:167–171, 2003
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Bertelli M, Randi D, Micheli V, et al. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. The Journal of Inherited Metabolic Disease, 27:767–773, 2004
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Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain, 129:1201–1217, 2006
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Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Archives of Neurology, 65:1240-1243, 2008
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Sarafoglou K, Grosse-Redlinger K, Boys CJ, et al. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Archives of Neurology, 67:761-764, 2010
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Fu R, Sutcliffe D, Zhao H, et al. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Molecular Genetics and Metabolism, 114: 55-61, 2015