Purines and Pyrimidines

Purine and pyrimidine nucleotides are essential for a vast number of biological processes and inherited disorders of purine and pyrimidine metabolism have a wide variety of clinical presentations. In addition, these genetic enzyme defects can have serious clinical consequences in more frequently occurring situations such as adverse reactions to medication. Because of this broad clinical spectrum, rapid and specific screening methods are desired for the diagnosis of these disorders in patients to enable appropriate treatment, genetic counseling and prenatal diagnosis. Targeted and general screening methods for purine and pyrimidine analyses in liquid urine or urine-soaked filter paper strips have been developed using UPLC-electrospray tandem mass. The availability of these methods provides powerful tools to (pre)screen patients at risk.