Lesch-Nyhan Syndrome: a rare disorder of self-mutilating behavior

• Asıl Yazarlar: Mrinal Gupta (Yazar), Vikram K. Mahajan (Yazar), Vikas Sharma (Yazar), Pushpinder S. Chauhan (Yazar), Karaninder S. Mehta (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Our Dermatology Online, 2014-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error of purine metabolism presents in infancy with a constellation of mental and developmental retardation, self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basi...