ABSTRACT
Methodology, such as high-pressure liquid chromatography tandem mass spectrometry, has facilitated the diagnosis and the differential diagnosis of disorders of pyrimidine metabolism. Inherited disorders remain rare. In a study of 450 children with nonspecific neurologic manifestations, such as seizures and delayed development, two were found to excrete elevated amounts of uracil and thymine and were diagnosed as having dihydropyrimidine dehydrogenase deficiency [1].
