PUMPA - Purine Metabolic Patients' Association

Pumpa Purine Research Unit
3rd Floor
South Wing
St Thomas' Hospital
London
SE1 7EH

Tel: 020 7188 1276

PUMPA is a registered charity supporting patients with distressing genetic metabolic disorders which can cripple and kill. There are 28 purine metabolic disorders with a wide range of symptoms. PUMPA's constitutional aim is to advance knowledge of purine metabolic disorders among the medical profession and the public. By so doing, it aims to improve the care of patients and the support for them and their families. The main activities include the following.

• Supporting research - PUMPA currently helps fund research at the purine research laboratory at St Thomas' Hospital in London which provides the only diagnostic service in Britain and has an international reputation.
• Supporting patients - although there are no cures and only some patients can be treated, others can be helped to live with their disability.
• Spreading knowledge - the Association produces a newsletter for members and organises an annual seminar on one of the diseases; information is also made available to the press and medical profession.
• Fundraising - in order to maintain support for the purine research laboratory and to promote it as a proposed European centre.
• PUMPA has produced booklets on Caring for Children with Lesch Nyhan Syndrome, Caring for Children with APRT deficiency, Caring for Children with FJHN, Caring for Children with ADA deficiency.