Purine and pyrimidine metabolism: still more to learn

Mammalian metabolism is heavily dependent on proper functioning of purine and pyrimidine synthesis, interconversion and degradation. Purine- and pyrimidine derived compounds are essential in numerous processes throughout life, including the synthesis of macromolecules, oxidative phosphorylation, signal transduction and high energy transfer. This ubiquitous presence is the reason that disturbances in purine and pyrimidine metabolism can result in life threatening clinical conditions. Understanding of this metabolism under normal and compromised circumstances is essential to diagnose inborn errors of purine and pyrimidine metabolism. The desire to gain more insight in these pathways is the basis of on going research covering different aspects of purine and pyrimidine metabolism, with special emphasis on purine biosynthesis, mitochondrial purine and pyrimidine metabolism and the pharmacogenetic aspects of synthetic purine and pyrimidine compounds. Other areas of interest are the role of the enzyme ITPase in mammalian metabolism and the development of diagnostic tools to detect defects in purine and pyrimidine metabolism on the metabolite, protein and molecular level. Inherited defects in purine and pyrimidine metabolism