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Evaluation of acute-onset risk of MCAD deficiency found by newborn screening

Research Project

Project/Area Number 26461526
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionNational Center for Child Health and Development (2016)
Hiroshima University (2014-2015)

Principal Investigator

Tajima Go  国立研究開発法人国立成育医療研究センター, マス・スクリーニング研究室, 室長 (00432716)

Research Collaborator OKADA Satoshi  広島大学, 大学院医歯薬保健学研究科, 講師
TSUMURA Miyuki  広島大学, 大学院医歯薬保健学研究科, 研究員
HARA Keiichi  国立病院機構呉医療センター, 小児科, 医長
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
KeywordsMCAD 欠損症 / 脂肪酸代謝異常症 / 新生児マススクリーニング / タンデムマス / 低血糖症 / 乳幼児突然死 / MCAD欠損症 / マススクリーニング
Outline of Final Research Achievements

In order to appropriately evaluate the risk of acute metabolic failure in patients with MCAD deficiency found by newborn screening, we have constructed a database of biochemical, enzymatic, and genetic information. We newly diagnosed 27 patients in the last 3 years, and the cumulative number of our diagnosis reached 61. Most cases showed good correlation between blood marker levels and enzymatic activities in sonicated lymphocytes. There were several cases showing dissociation between these indicators, and an assay of fatty acid oxidation by cultured lymphocytes successfully proved their enzymatic defects. In addition, their variant enzymes showed poor response toward C6-CoA, while the major variant enzymes toward C8-CoA. We have to integrate biochemical, enzymatic, and genetic findings to appropriately estimate risk of acute onset harbored by newborn screening patients, which is essential to avoid catastrophic outcomes.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (12 results)

All 2016 2015 2014 Other

All Journal Article (4 results) (of which Peer Reviewed: 3 results,  Acknowledgement Compliant: 3 results) Presentation (6 results) (of which Int'l Joint Research: 1 results,  Invited: 2 results) Remarks (2 results)

  • [Journal Article] Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation2016

    • Author(s)
      Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M
    • Journal Title

      Molecular Genetics and Metabolism

      Volume: 119 Issue: 4 Pages: 322-328

    • DOI

      10.1016/j.ymgme.2016.10.007

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Significance of ACADM mutations identified from newborn screening of MCAD deficiency in Japan2016

    • Author(s)
      Keiichi Hara, Go Tajima, Satoshi Okada, Miyuki Tsumura, Reiko Kagawa, Kenichiro Shirao, Yoshinori Ohno, Shin'ichiro Yasunaga, Motoaki Ohtsubo, Ikue Hata, Nobuo Sakura, Yosuke Shigematsu, Yoshihiro Takihara, Masao Kobayashi
    • Journal Title

      Molecular Genetics and Metabolism

      Volume: 118 Issue: 1 Pages: 9-14

    • DOI

      10.1016/j.ymgme.2015.12.011

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] タンデムマス新生児スクリーニング in 広島:自治体事業化後の現状2015

    • Author(s)
      但馬剛,津村弥来,香川礼子,岡田賢,原圭一,松本裕子,枡田紗季,森岡千代美,吉井千代子,佐倉伸夫,畑郁江,重松陽介
    • Journal Title

      日本マススクリーニング学会誌

      Volume: 25 Pages: 57-66

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] タンデムマス・スクリーニングの二次検査:酵素学的診断と遺伝子解析2014

    • Author(s)
      但馬剛,津村弥来,香川礼子,原圭一,岡田賢,佐倉伸夫
    • Journal Title

      小児内科

      Volume: 46 Pages: 515-518

    • Related Report
      2014 Research-status Report
  • [Presentation] 脂肪酸代謝異常症陽性例への対応:見逃し例を出さないために2016

    • Author(s)
      但馬剛, 津村弥来, 香川礼子, 岡田賢, 原圭一, 佐倉伸夫, 畑郁江, 重松陽介
    • Organizer
      第43回日本マススクリーニング学会学術集会
    • Place of Presentation
      札幌市
    • Year and Date
      2016-08-26
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Presentation] Screening of MCAD deficiency in Japan: 15 years' experience of enzymatic and genetic evaluation2016

    • Author(s)
      Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M
    • Organizer
      13th International Congress of Human Genetics
    • Place of Presentation
      Kyoto, Japan
    • Year and Date
      2016-04-03
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Enzymatic and genetic study of MCAD deficiney: 14-year experience in Japan2015

    • Author(s)
      香川礼子,但馬剛,津村弥来,原圭一,岡田賢,松本裕子,佐倉伸夫,畑郁江,重松陽介,小林正夫
    • Organizer
      第57回日本先天代謝異常学会総会
    • Place of Presentation
      大阪市
    • Year and Date
      2015-11-12
    • Related Report
      2015 Research-status Report
  • [Presentation] MCAD欠損症の酵素・遺伝子診断:14年間の知見2015

    • Author(s)
      但馬剛,津村弥来,香川礼子,原圭一,岡田賢,松本裕子,枡田紗季,森岡千代美,吉井千代子,佐倉伸夫,畑郁江,重松陽介
    • Organizer
      第42回日本マススクリーニング学会学術集会
    • Place of Presentation
      東京都
    • Year and Date
      2015-08-21
    • Related Report
      2015 Research-status Report
  • [Presentation] タンデムマス新生児スクリーニング:脂肪酸代謝異常症を中心に2015

    • Author(s)
      但馬剛
    • Organizer
      第6回成育代謝異常研究会
    • Place of Presentation
      東京都世田谷区
    • Year and Date
      2015-03-27
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] タンデムマス新生児スクリーニング in 広島:自治体事業化後の現状2014

    • Author(s)
      但馬剛,津村弥来,香川礼子,岡田賢,原圭一,松本裕子,枡田紗季,森岡千代美,吉井千代子,佐倉伸夫,畑郁江,重松陽介
    • Organizer
      第41回日本マス・スクリーニング学会学術集会
    • Place of Presentation
      広島市
    • Year and Date
      2014-08-22 – 2014-08-23
    • Related Report
      2014 Research-status Report
  • [Remarks] 国立成育医療研究センター研究所マススクリーニング研究室オリジナルページ

    • URL

      http://nrichd.ncchd.go.jp/massscreening/original/mainpage.html

    • Related Report
      2016 Annual Research Report
  • [Remarks] 新生児スクリーニングで発見される MCAD欠損症例の急性発症リスク評価 に関する研究

    • URL

      http://home.hiroshima-u.ac.jp/syoni/hiroped/doctors/research_files/kaken_mcad_2014.pdf

    • Related Report
      2014 Research-status Report

URL: 

Published: 2014-04-04   Modified: 2018-03-22  

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