pediatrics
Overview of Purine and Pyrimidine Metabolism Disorders
Introduction
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 Purine Metabolism Disorders ) are categorized as Purine Catabolism Disorders None Purine Nucleotide Synthesis Disorders None Purine Salvage Disorders None There are a number of Pyrimidine Metabolism Disorders . See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism . 