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1996 Fiscal Year Final Research Report Summary

Application of GC/MS chemical diagnosis to neonatal mass screening

Research Project

Project/Area Number 07672503
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory medicine
Research InstitutionKanazawa Medical University

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)

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)
Project Period (FY) 1995 – 1996
KeywordsGC / MS / metabolic disorder / chemical diagnosis / neonatal mass screening
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.

  • Research Products

    (8 results)

All Other

All Publications (8 results)

  • [Publications] 久原とみ子、松本勇: "GC/MSによる尿中代謝物一斉分析ーマススクリーニングへの応用の試み" Proc.Jap.Soc.Biomed.Mass Spectrom.20. 45-51 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 松本 勇: "医療に大きく役立てられている質量分析-その基礎から応用まで" 日本マススクリーニング学会誌. 5(3). (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 久原とみ子: "ガスクロマトグラフ-質量分析を用いる化学診断法の新生マススクリーニングへの応用" 金医大誌. 20(4). 521-526 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] I.Matsumoto: "A new chimical diagnostic method for inborn errors of metabolism by mass spectrometry" Mass Spectrom.Rev.15. 43-57 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] C.Ning: "Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS" Clin.Chim.Acta. 247. 197-200 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 松本 勇・坂元正一: "臨床化学診断学" ソフトサイエンス社, 466 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] I.Matsumoto, T.Kuhara: "A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry" Mass Spectrom.Rev.Vol.15 No.1. 43-57 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] C.Ning, T.Kuhara, I.Matsumoto: "Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de toni-Fanconi-Debre syndrome by GC/MS" Clin.Chim.Acta. 247. 197-200 (1996)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1999-12-08  

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