Adenine phosphoribosyltransferase deficiency

Overview

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; catabolism of pyrimidines produces citric acid cycle intermediates.

Symptoms

•   Urinary tract stones
•   Kidney stones 
•   Bladder stones 
•   Urethral stones 
•   Colic

Diagnosis

Diagnosis is suggested by the combination of dystonia, retardation, and self-mutilation. Serum uric acid levels are usually elevated, but confirmation by HPRT enzyme assay is usually done.