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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)
松本 雅裕  金沢医科大学, 研究所, 助手
Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1996: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1995: ¥1,100,000 (Direct Cost: ¥1,100,000)
KeywordsGC / MS / metabolic disorder / chemical diagnosis / neonatal mass screening / フェニールケトン尿症 / 楓糖尿症 / ホモシスチン尿症 / ガラクトース血症 / チロジン症
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.

Report

(3 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • Research Products

    (22 results)

All Other

All Publications (22 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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [Publications] I.Matsumoto: "A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry" MS Reviews. 15・1. 43-57 (1996)

    • Related Report
      1996 Annual Research Report
  • [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)

    • Related Report
      1996 Annual Research Report
  • [Publications] T.Fukao: "Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings : Identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes" Clin Genetics. 50. 263-266 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] C.Ning: "Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome" Acta Paediatr. Jpn.38. 661-666 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 寧聡: "GC/MSによる高ガラクトース血症の化学診断" Proc. Jap. Soc. Biomed. Mass Spectrom.21. 155-158 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 松本勇: "GC/MSを用いた化学診断法による糖尿病の研究" 金医大総医研年報. 7. 160-170 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 張春花、松本雅裕、他 名: "代謝疾患の化学診断 第3報:グルコース高排泄を伴うメチルマロン酸血症とイソ吉草酸血症の各1例" 金医大誌. 20. 272-277 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 久原とみ子、松本勇: "マススペクトロメトリーによる生体成分の簡単な一斉分析法-新生児マススクリーニングへの応用-" 先端医療. 6. 37-40 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Masahiro Matsumoto et al.: "Gas Chromatography-Mass Spectrometric Studies of Canine Urinary Metabolism" J. Vet. Med. Sci.57. 205-211 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Cong Ning, Tomiko Kuhara, Isamu Matsumoto: "Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS" Clinica Chimica Acta. (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] (奥野章)新家敏弘: "重症心身障害児におけるバルプロ酸の血中動態について" 重症心身障害研究会誌. 20. 3-7 (1995)

    • Related Report
      1995 Annual Research Report
  • [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. 61-65 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 松本勇: "「臨床化学診断学(松本勇,坂元正一監修,久原とみ子,芳野信,須藤正克編)" ソフトサイエンス社,東京, 466 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 久原とみ子: "「臨床化学診断学」(松本勇,坂元正一監修,久原とみ子,芳野信,須藤正克編)" ソフトサイエンス社,東京, 466 (1995)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2018-02-02  

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