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 
) include
Also see Approach to the Patient With a Suspected Inherited Disorder of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more and testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .
Phosphoribosylpyrophosphate synthetase superactivity
This X-linked recessive X-Linked Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more disorder causes purine overproduction. Excess purine is degraded, resulting in hyperuricemia and gout Gout Gout is a disorder caused by hyperuricemia (serum urate > 6.8 mg/dL [> 0.4 mmol/L]) that results in the precipitation of monosodium urate crystals in and around joints, most often causing recurrent... read more 
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 Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more 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 is an English-language resource that 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
Drugs Mentioned In This Article
| Drug Name | Select Trade |
|---|---|
allopurinol |
Aloprim, Zyloprim |
