Overview of Purine and Pyrimidine Metabolism Disorders

ByMatt Demczko, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia
Reviewed/Revised Mar 2024
View Patient Education

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

There are a number of pyrimidine metabolism disorders.

See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.

Table
Table

More Information

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

  1. Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information

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