8-hydroxy-2--deoxyguanosine and Purine-Pyrimidine-Metabolism--Inborn-Errors

Dihydropyrimidine dehydrogenase (DPD) constitutes the first step of the pyrimidine degradation pathway in which the pyrimidine bases uracil and thymine are catabolised to beta-alanine and beta-aminoisobutyric acid (beta-AIB), respectively. The mean concentration of beta-AIB was approximately 5- to 8-fold lower in urine of patients with a DPD deficiency, when compared to age-matched controls. Comparable levels of 8-hydroxydeoxyguanosine (8-OHdG) were present in urine from controls and DPD patients at the age <2 year. In contrast, slightly elevated levels of 8-OHdG were detected in urine from DPD patients with an age >2 year, suggesting the presence of increased oxidative stress.

Topics: 8-Hydroxy-2'-Deoxyguanosine; Aminoisobutyric Acids; Case-Control Studies; Child, Preschool; Chromatography, High Pressure Liquid; Deoxyguanosine; Dihydropyrimidine Dehydrogenase Deficiency; Electrochemistry; Humans; Infant; Oxidative Stress; Purine-Pyrimidine Metabolism, Inborn Errors