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Overview of Purine and Pyrimidine Metabolism Disorders

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Oct 2021
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Topic Resources

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 Purine Metabolism Disorders Purine Metabolism Disorders ) are categorized as

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The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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