Urease-pretreatment, stable isotope dilution and gas chromatographic mass spectrometrie application for the chemical diagnosis of inborn errors of metabolism

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1. In pyrimidine degradation three enzymes, PDH, DHP and UPase, are involved. In these enzyme deficiecies, pyrimidine analogues used for cancer chemotherapy cause serious side-effects. To prevent such severe side-effects, we developed a method by which specific, rapid and sensitive chemical diagnosis can made In "Modern Drug Discovery" published by American Chemical Society evaluated our method in "News in Brief".2. Using urease-pretreatment, stable isotope dilution and GC/MS, we established a method to make differential chemical diagnosis of homocystinuria. We also confirmed that this method also detect folate deficiency secondarily caused by homocystinuria type I.3. In the pilot study of neonatal screening, propionic acidemia )PCCD) and α-ketoadipic aciduria were found to occure 1 to 10,000〜20,000 babies. To detect mild type PCCD was supposed to be rather difficult in MS/MS using blood spots (J. Inher. Metab. Dis., (in press)).