Biochemical alterations revealed in patients with Lesch-Nyhan disease

An international study by the Institute of Neuroscience of the UAB (INC-UAB), Emory University and Hospital Universitario La Paz, published in the PNAS journal, shows that patients suffering from Lesch-Nyhan, a rare neurological disease, present biochemical alterations in skin cells (fibroblasts), urine and cerebrospinal fluid. Researchers have also discovered why these alterations had not been observed before: the high levels of folic acid (B9 vitamin) usually used in cell cultures reverse them.