When a defective gene causes gaps to appear in the metabolic recycling process for purines and pyrimidines, these chemicals are not metabolised properly, and adults or children can suffer from any one of twenty-eight hereditary disorders, possibly some more as yet unknown. Symptoms can include gout, anaemia, epilepsy, delayed development, deafness, compulsive self-biting, kidney failure or stones, or loss of immunity.
Purine metabolism can have imbalances that can arise from harmful nucleotide triphosphates incorporating into DNA and RNA which further lead to genetic disturbances and mutations, and as a result, give rise to several types of diseases. Some of the diseases are:
#Severe immunodeficiency by loss of adenosine deaminase.
#Hyperuricemia and Lesch–Nyhan syndrome by the loss of hypoxanthine-guanine phosphoribosyltransferase.
#Different types of cancer by an increase in the activities of enzymes like IMP dehydrogenase.