PUMPA – the Purine Metabolic Patients’ Association – is a charity set up to provide information and support for, and to encourage research into, a group of genetic metabolic purine and pyrimidine disorders.

These hereditary disorders take many forms, but are very often disastrous and totally debilitating for the sufferers. They affect the way certain chemicals in the body – purines and pyrimidines – are metabolised, or processed, which means that the normal way that the body’s building blocks work can be totally disrupted.

Some of the many results of this include bizarre neurological deficits (as in Lesch-Nyhan Disease) which can mean that a child is unable to walk or talk, immunodeficiency disorders which can mean a baby dies from overwhelming infection, and gout, severe kidney damage or kidney failure caused by excess uric acid.

Early diagnosis is vital because some of the symptoms are treatable, but these conditions are often neither known nor understood because most of the 28 disorders we know about have only been identified since 1970: their novelty makes it difficult for clinicians to keep pace.

PUMPA needs to stimulate awareness of these disorders, develop more patient support groups, and raise funds to support research by the Purine Research Unit at St Thomas’ Hospital.

We would encourage you to join us, or to donate money, in order to help us continue our work.

Latest News: The United Mitochondrial Disease Foundation (UMDF) funds novel therapy for the treatment of MNGIE

Research scientists at St. George’s University of London have received an award from the United Mitochondrial Disease Foundation (UMDF) to investigate a novel enzyme replacement therapy for the treatment of patients with mitochondrial neurogastrointestinal encephalomyopathy(MNGIE). This rare pyrimidine disorder is caused by an absence of the enzyme thymidine phosphorylase, and leads to severe gastrointestinal dysmotility, loss of sensation and severe muscle weakness. There is currently no recognised treatment or cure for MNGIE. In this study, the missing enzyme will be put into the patient’s own red blood cells which will be returned to the patient, allowing the delivery of the missing enzyme to the circulation, and enabling the enzyme to metabolise the toxic metabolites which accumulate in MNGIE. The research team are currently recruiting patients with MNGIE. For further information, please contact Dr Bridget Bax, email: bebax@sgul.ac.uk.

PUMPA seminar: Food and Your Purine Disease

held on Saturday, November 15th, 2008 at St Thomas’ Hospital, London

14.00h Basic principles - why diet affects purine metabolism (Prof David Perrett) - PowerPoint slides
14.25h Basic biochemistry purine content of food (Dr Liz Carrey) - PowerPoint slides
14.50h Diet in the treatment of purine disorders (Dr Tony Marinaki) - PowerPoint slides
15.15h Can dietary restriction in thymidine Phosphorylase deficiency help? Experience in one case (Dr Jo Poulton)
15.30h Gout and fructose? (Dr Lynette Fairbanks) - PowerPoint slides
15.45h A Patient’s experience with gout (Mr Jeffrey James)
16.00h General Discussion