Purine Metabolic Disorders

Purines – what are they?

Purines are natural chemicals, found everywhere in our bodies. With similar chemicals called pyrimidines, purines are incorporated into the nucleic acids, DNA and RNA, that contain the information to control each living cell; purines in the form of ATP also allow us to obtain energy from food.

What are metabolic disorders?

Metabolism is the process by which organisms make energy and other chemicals from food, or recycle waste chemicals for eventual excretion. Several steps are involved in converting purines into nucleotides (which in turn are used to make nucleic acids or other complex molecules) and finally in recycling and possible re-use of purines. Each step is carried out by a separate enzyme. If an altered gene encodes a defective enzyme, this may lead to a fault in a crucial process.  

Scientists have helped to identify at least 28 known hereditary disorders in these purine processes, with symptoms such as gout, kidney failure, anaemia, epilepsy, delayed development, deafness, immune deficiency, or neurological problems. Each can be diagnosed by analysing components of the blood or urine from affected patients.

How does PUMPA help?

PUMPA was founded by members and friends of the Purine Research Laboratory at St Thomas’ Hospital (formerly the Purine Research Unit at Guy’s Hospital, founded in 1970). Their research was the first to identify some of the purine metabolic disorders, and to confirm the cause of symptoms that have hitherto perplexed families and doctors. Donations to PUMPA support the continuing research into diagnostic methods and the identification of new disorders at the Purine Research Laboratory, and in other laboratories in the UK.

(see the glossary for specialist terms)