Genetic metabolic disease of pyrimidine metabolism: Implications for diagnosis and treatment

Inborn errors of pyrimidine metabolism are more common than generally assumed. These disorders are often overlooked because most of the patients present with nonspecific clinical symptoms. Analysis of body fluids using screening methods covering a broad spectrum of pyrimidine metabolites is essential to detect these disorders. This article presents all of the well-established inherited disorders in this field, methods for detection, clinical symptoms, mode of inheritance, diagnosis, treatment, and developments at the molecular level. The most frequently problems in the detection of these diseases are discussed.