Purine nucleotide synthesis disorders

[Julian]

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

Purine catabolism disorders
Purine salvage disorders

Also see Approach to the Patient With a Suspected Inherited Disorder of Metabolism and testing for suspected inherited disorders of metabolism.