How common are purine metabolic disorders?
The most common disorder is gout, a painful swelling at joints in feet or hands. It results from the accumulation of uric acid as purines are broken down in the body. Classical gout is seen in middle-aged men, and increasingly in older women, and results from a fall in the ability of the kidney to remove uric acid into the urine. It can be treated very effectively with drugs and sensible lifestyle changes.
Most of the hereditary metabolic disorders are much less common, and many family doctors may see only one case in a professional lifetime. Some of the disorders are life-limiting and may be associated with serious disability.
What symptoms could occur?
Gout symptoms (see above) in women or young people should be investigated, since they may be related to a purine metabolic disorder or kidney failure.
A baby who does not thrive, or one that has ‘gravel’ in the nappy, or a child with a history of infections that do not respond to treatment may have a defect in one of the purine metabolic steps.
Some neurological defects, such as seizures, movement disorders, ataxia, deafness, or delayed development may be the result of defects in purine metabolism
What treatments are available?
A few of the metabolic disorders can be treated, if diagnosed early enough, and some can be managed by restricting the patient’s diet.
In some cases, gene therapy (see glossary) may help to replace the defective gene, but this method is not widely available except for some types of SCID (severe combined immunodeficiency).
Prenatal testing and genetic counselling can help parents who already have an affected child and who wish to discuss the likelihood of having healthy children in the future.
Information on selected disorders:
PUMPA has prepared a series of booklets covering some of the purine metabolic disorders. We aim to provide patients, parents and professionals with the basic facts – the clinical presentation, biochemistry, progression, recent advances in their treatment, and links to further help. We have drawn on the experience of patients, doctors and scientists in the United Kingdom and Europe. The booklets are available from the Secretary (see Contact Us) or you may download the text from the links given below. You may like to donate £5/$8/s€8 per booklet.
These texts (*) contain a diet sheet that summarises the requirements for a low-purine, caffeine-free diet used in the investigation of this disorder.
Please note that many of the contact details in the booklets may now be obsolete. See instead the Useful links section on this website.
‘Gout, answers at your fingertips’by L.G. Darlington, E.A. Carrey, D. Perrett; Second edition 2013 published by Class Publishing (London) Ltd offers a guide to the symptoms and treatment of gout for all patients, including some purine metabolic disorders, and describes recent studies on the influence of diet on developing classical gout.