1996 Fiscal Year Final Research Report Summary
Application of GC/MS chemical diagnosis to neonatal mass screening
| Project/Area Number |
07672503
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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 |
MATSUMOTO Isamu Div.of Human Genetics, Medical Research Institute, Kanazawa Medical University, Professor, 総合医学研究所・人類遺伝学研究部門生化学, 教授 (20080567)
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| Co-Investigator(Kenkyū-buntansha) |
INOUE Yoshito Div.of Human Genetics, Medical Research Institute, Kanazawa Medical University,, 総合医学研究所, 講師 (20080616)
SHINKA Toshihiro Div.of Human Genetics, Medical Research Institute, Kanazawa Medical University,, 総合医学研究所, 助教授 (10098858)
KUHARA Tomiko Div.of Human Genetics, Medical Research Institute, Kanazawa Medical University,, 総合医学研究所, 教授 (30080568)
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| Project Period (FY) |
1995 – 1996
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| Keywords | GC / MS / metabolic disorder / chemical diagnosis / neonatal mass screening |
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| Research Abstract |
By using the newly developed diagnostic procedure for inborn errors of metabolism, a pilot study of its application to newborn mass screening for 22 (at present, and will be increased) metabolic diseases was started on February 1, 1995 in cooperation with four medical institutes (Kanazawa Medical University, Kurume University School of Medicine, Shimane Medical University, and Chiba Children's Hospital) and three instrument manufacturers (Shimadzu Seisakusho Ltd., JEOL Ltd., and Yokogawa Analytical Systems Inc.). So far, 2,953 samples were tested by us in kanazawa, and 4 cases were chemically diagnosed as having metabolic disorders. Methylmalonic aciduria, cystinuria (3 cases). The rate of incidence was 1 per 738. Also, 68 cases were found to have transient metabolic abnormalities ; 91 cases with transient neonatal galactosuria, 11 cases with transient neonatal tyrosinuria. We believe this program can also offer valuable information on human genetics.
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