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Purine Nucleotide Synthesis 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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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.

In addition to purine nucleotide synthesis disorders, purine metabolism disorders (see also table Purine Metabolism Disorders Purine Metabolism Disorders Purine Metabolism Disorders ) include

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.

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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