Purine Metabolic Patients’ Association

The Purine Metabolic Patients’ Association (PUMPA) is an international, non-profit, support organization in the United Kingdom for individuals with purine metabolic disorders and their families. Founded in 1992 by a small group of affected families and friends, the association is dedicated to advancing knowledge of purine metabolic disorders among the medical profession and the general public in its aim to improve the care and increase the support received by affected individuals. Inborn errors in the metabolism of purines, which are compounds found in many foods, medications, and other substances, result in several different disorders. There are currently over 20 known inherited disorders of purine metabolism, causing a wide range of associated symptoms and findings. Depending upon the specific disorder, affected individuals may experience such symptoms as gout, anemia, autism, episodes of uncontrolled electrical disturbances in the brain (seizures), delayed development, deafness, kidney stones and/or renal failure, impaired immunity, self-destructive behaviors such as biting or head-banging, and/or other abnormalities. The Purine Metabolic Patients’ Association is committed to providing networking services to affected individuals and families, enabling them to exchange mutual support, information, and resources. The association also promotes and supports research currently being conducted by the Purine Research Laboratory at Guy’s Hospital, London. In addition, the Purine Metabolic Patients’ Association offers a variety of educational materials including pamphlets, booklets providing understandable information on specific purine metabolic disorders, and a regular newsletter. The association also has a web site on the Internet that provides a description of the organization’s goals and services, information on purine metabolic disorders, networking opportunities including a guest book and a forum area, and dynamic linkage to additional sources of information and support on the Internet.