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Purine Nucleotide Synthesis Disorders

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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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 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.

Phosphoribosylpyrophosphate synthetase superactivity

Diagnosis of phosphoribosylpyrophosphate synthetase superactivity is by DNA analysis.

Phosphoribosylpyrophosphate synthetase superactivity treatment is with allopurinol and a low-purine diet.

Adenylosuccinase deficiency

Diagnosis of adenylosuccinase deficiency is by DNA analysis.

There is no effective treatment for adenylosuccinase deficiency.

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