Abstract
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 basic defect is deficiency in phosphoribosyl transferase production but exact pathomechanism for clinical symptomatology remains un-elucidated. No specific medical treatment is available.
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