| Project/Area Number |
11672312
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Kanazawa Medical University |
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Principal Investigator |
KUHARA Tomiko Kanazawa Medical University, Div. of Human Genetics, Medical Research Institute, Professor, 総合医学研究所, 教授 (30080568)
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| Co-Investigator(Kenkyū-buntansha) |
INOUE Yoshito Kanazawa Medical University, Div. of Human Genetics, Medical Research Institute, Associate Professor, 総合医学研究所, 講師 (20080616)
SHINKA Toshihiro Kanazawa Medical University, Div. of Human Genetics, Medical Research Institute, Associate Professor, 総合医学研究所, 助教授 (10098858)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2000: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1999: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Keywords | GC / MS / Inborn error of metabolism / chemical diagnosis / pyrimidine degradation / homocystinuria / Pilot study of neonatal screening / folate deficiency / Propionic acidemia / 先天性代謝疾患 / 自動前処理 / 診断システム / 新生児スクリーニング / 5-フルオロウラシル / ろ紙尿 / 代謝性疾患 / 新生児マススクリーニング |
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| Research Abstract |
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)).
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