Disorders of Purine and Pyrimidine Metabolism

Abstract

Inborn errors of purine and pyrimidine metabolism manifest themselves by a variety of clinical pictures. Table I gives a list of the major presenting signs and laboratory results that should lead to further investigations to rule out or to confirm the diagnostic possibilities listed. All inborn errors of purine and pyrimidine metabolism are very rare. Their recognition is, nevertheless, important for the provision of both appropriate treatment and genetic counseling. Some of the enzyme defects are benign but several have severe, life-threatening or devastating consequences. Whereas some of the disorders are amenable to treatment, others remain beyond the presently available therapeutic possibilities.