Metabolic Compulsion: The Genetic Tragedy of Involuntary Self-Mutilation

It is one of the most horrifying and heartbreaking conditions in modern genetics. Lesch-Nyhan Syndrome is an ultra-rare metabolic disorder caused by the deficiency of a single enzyme (HPRT1). While this defect leads to a massive overproduction of uric acid and severe kidney issues, its most terrifying symptom is neurological. Patients, almost exclusively male children, are driven by an uncontrol...