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Purine Nucleotide Synthesis Disorders


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.

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

Phosphoribosylpyrophosphate synthetase superactivity

This X-linked recessive disorder causes purine overproduction. Excess purine is degraded, resulting in hyperuricemia and gout and neurologic and developmental abnormalities.

Diagnosis of phosphoribosylpyrophosphate synthetase superactivity is by DNA analysis.

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

Adenylosuccinase deficiency

This autosomal recessive disorder causes profound intellectual disability, autistic behavior, and seizures.

Diagnosis of adenylosuccinase deficiency is by DNA analysis.

There is no effective treatment for adenylosuccinase deficiency.

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