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
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism and testing for suspected inherited disorders of metabolism.
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.
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.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
