2B-O1-0930 PDF
An assay of pyrimidine metabolites by UPLC/MS/MS
Inborn error of pyrimidine metabolism is one of inherited metabolic diseases and due to synthetic or catabolic enzyme defect. This disease shows various symptoms such as severe developmental disorder, hypotonia, microcephaly and so on. The number of cases lack, and the details such as onset frequency or the gene variation are unclear, and the accumulation of the further case is required. We developed a simultaneous determination method of metabolites accumulated for dihydropyrimidine dehydrogenase (DPDase) deficiency, dihydropyrimidinase (DHPase) deficiency and ureidopropionase (UPase) deficiency by UPLC/MS/MS. When urine samples of DHPase deficiency and UPase deficiency patients were analyzed by this method, highly-concentrated metabolites were excreted by comparing with control samples.