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

• Autores principales: Mrinal Gupta (Autor), Vikram K. Mahajan (Autor), Vikas Sharma (Autor), Pushpinder S. Chauhan (Autor), Karaninder S. Mehta (Autor)
• Formato: Libro
• Publicado: Our Dermatology Online, 2014-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...