Purine catabolism disorders

[exinilu]

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 and pyrimidines 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 catabolism disorders, purine metabolism disorders (see also table Purine Metabolism Disorders) include

Purine nucleotide synthesis disorders
Purine salvage disorders

Diagnosis is suspected clinically and typically confirmed by DNA analysis. See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism and testing for suspected inherited disorders of metabolism.