Twenty-three inherited purine or pyrimidine enzyme deficiencies have been found since the first was described in 1959. Their recent description means they are relatively little known and can remain undiagnosed or be misdiagnosed. Some present neonatally and are fatal in the first years of life, or up to the late teens, but milder forms presenting in adult life are also found. Others are associated with severe physical or mental handicap, epilepsy or autism. Some are benign.
Treatments are available for some, thus early recognition is vital.
The remainder are autosomal recessive. Genetic counselling is available. The Association is a National Registered Charity No. 1019792 founded in 1993 by parents of children affected by genetic purine diseases. Due to the large number of clinical conditions now known to result from defects in enzymes of purine or pyrimidine metabolism, it is not possible to include them all in this entry. They can be found listed individually in the index which is subject to regular update.