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Overview of Purine and Pyrimidine Metabolism Disorders

By

Matt Demczko

, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia

Last full review/revision Oct 2021| Content last modified Sep 2022
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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

Table

More Information

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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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
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