Overview of purine and pyrimidine metabolism disorders

[Lanell]

Purines are key components of cellular energy systems (eg, ATP, NAD), signaling (eg, GTP, cAMP, cGMP), and, along with pyrimidines, RNA and DNA production.
Purines and pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism.
The end product of complete catabolism of purines is uric acid; catabolism of pyrimidines produces citric acid cycle intermediates.
Purine metabolism disorders (see the table) are categorized as

Purine catabolism disorders
Purine nucleotide synthesis disorders
Purine salvage disorders

There are a number of pyrimidine metabolism disorders.
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.