More resources

Information on suggested diet

We have prepared a list of suggested dietery changes that may be of use to someone suffering with a purine or pyramidine disorder. This is also available as a pdf file (165kb).

Information for doctors and specialists

Here you will find some more technical information, designed to be read by medical professionals. This is also available as a pdf file (180kb).

Publications available from PUMPA

PUMPA has produced a series of booklets covering some of the metabolic diseases which come under the PUMPA umbrella. The objective of these booklets is to provide patients, parents and professionals with the basic facts about these disorders in a simple and acceptable fashion – the clinical presentation, biochemistry, progression, the most recent advances in their treatment, and, particularly, where to look when they want more help. To this end, the experience of those involved at every level in the United Kingdom and Ireland has been drawn on. Titles available are:

Caring for children with Lesch-Nyhan disease

A guide for parents and others concerned with the diagnosis and management of boys with this syndrome. This first volume records the proceedings of the first seminar on this subject held by PUMPA, forms part of a series which will cover other metabolic diseases under the PUMPA umbrella and will undoubtedly fill a much-needed gap. This volume will need to be revised frequently when the combined experience of those involved with LNS around the world has been drawn on. As yet, no such book exists anywhere to PUMPA’s knowledge.

Adult gout: new insights into an ancient malady

What is it? How do we get it? Why do we get it? How do we treat it? Living with it.

Caring for patients with adult gout and renal disease: recent advances in diagnosis and treatment

Caring for patients with Familial Juvenile Hyperuricaemic Nephropathy (FJHN)

Caring for patients with hereditary and medically-induced Xanthine Oxidase Deficiency (XOD)

Caring for patients with Adenine Phosphoribosyl Transferase (APRT) deficiency

Caring for patients with Adenosine Deaminase (ADA) deficiency

(Available as PDF).

All these booklets are available from PUMPA: non-member price: £5.00 (inc. postage and packing); overseas: £8/€13.00.

Payment

Payment should be made by cheque, drawn on a UK bank and made payable to PUMPA. (Cheques drawn on overseas banks incur very high bank charges which often amounts to around £12 per cheque, regardless of the cheque amount, and we would have to add this amount to the total.) Unfortunately we are unable to accept credit card payments.

Links to other websites of interest

Purine and Pyrimidine Society
International society which organises biennial symposia open to all members (was the European Society for the Study of Purine and Pyrimidine Metabolism in Man).

British Inherited Metabolic Disease Group (BIMDG)
A group set up to improve the provision of services for patients with inherited metabolic disorders.

Society for the Study of Inborn Errors of Metabolism
A UK charity founded to foster the study of inherited metabolic disorders and related topics.

Purine Research Society
US-based society formed by parents of children with Purine Autism (autistic children who excrete too much uric acid in their urine).

General support groups

Contact A Family
Support for families with children with special needs, including rare disorders.

Action Medical Research
A UK charity looking for answers to a wide range of diseases and conditions that affect young and old, independent of political or commercial influence.

General information

Health On The Net Foundation
HON is a non-profit, non-governmental organization promoting and guiding the deployment of useful and reliable online medical and health information, and its appropriate and efficient use.

MedLine
US-based search site leading to other medical sites to help answer health questions.

National Library of Medicine
Facility to search US medical publications.

Online Mendelian Inheritance in Man
A database on the above site: a catalogue of human genes and genetic disorders.

National Organisation for Rare Disorders
A US-based federation of voluntary health organizations dedicated to helping people with ‘orphan’ diseases (i.e. very rare diseases) and assisting the organizations that serve them.

Parents of Galactosemic Children Inc.
A non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families in the US affected by galactosemia (a rare genetic metabolic disorder).

World Wide Web Virtual Library: medicine
A list of links to medical information on the web.

Children Living with Inherited Metabolic Diseases
Run by the National Information Centre for Metabolic Diseases

www.ukselfhelp.info
The national directory of UK self help groups and support organisations