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Search for congenital metabolic disorders potentially associated with sudden infant death syndrome and establishment of a genetic counseling system.

Research Project

Project/Area Number 18K10465
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 58070:Lifelong developmental nursing-related
Research InstitutionOita University

Principal Investigator

SHIMADA Yumi  大分大学, 医学部, 医員 (50548146)

Co-Investigator(Kenkyū-buntansha) 久我 修二  大分大学, 医学部, 客員研究員 (20773815)
井原 健二  大分大学, 医学部, 教授 (80294932)
Project Period (FY) 2018-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords新生児マススクリーニング / タンデムマス法 / 乳幼児突然死症候群 / 先天代謝異常症 / 乾燥濾紙血 / タンデムマス分析 / 遺伝カウンセリング
Outline of Final Research Achievements

Newborn screening of IEM using tandem mass spectrometry has become a public health strategy in many developed countries.Prompt and effective intervention in screening-positive patients is particularly important in cases of IEM. Retrospective analyses using stored dried blood specimens have been limited, mainly due to a lack of biochemical information on the long-term stability of acylcarnitines and amino acids in stored specimens. We studied the characteristic profiles of the stability of amino acid, free carnitine, and acylcarnitines in dried blood specimens stored in a refrigerator after newborn screening. These data suggested that a part of metabolic parameters from refrigerator-stored dried blood specimens were applicable for the detection of inborn errors of metabolism.

Academic Significance and Societal Importance of the Research Achievements

タンデムマス法は、乳幼児突然死症候群の中の先天代謝異常症を同定し死因の解明に繋がる場合がある。タンデムマス法による新生児マススクリーニング導入前に乳幼児突然死症候群で死亡した症例の保存濾紙血から、後方視的に未診断の先天代謝異常症を同定することができれば、発見された先天代謝異常症の死亡症例を通してその遺族の中の潜在的なニーズを把握し、家族に対して遺伝カウンセリングを行うことで正確な情報を提供することが可能になると考えられる。

Report

(6 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (4 results)

All 2023 2022 2021

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (3 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Stability of amino acids, free and acyl‐carnitine in stored dried blood spots2022

    • Author(s)
      Shimada Yumi、Kawano Nanae、Goto Miho、Watanabe Hiromi、Ihara Kenji
    • Journal Title

      Pediatrics International

      Volume: 64 Issue: 1

    • DOI

      10.1111/ped.15072

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Stability of amino acids, free and acyl-carnitine in stored dried blood spots2023

    • Author(s)
      Yumi Shimada, Nanae Kawano, Miho Goto, Hiromi Watanabe, Kenji Ihara
    • Organizer
      11th International Meeting of Pediatric Endocrinology
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Stability of amino acids, free and acyl-carnitine in stored dried blood spots2022

    • Author(s)
      島田祐美 川野奈々江 後藤美穂 渡邉裕美 井原健二
    • Organizer
      第63回先天代謝異常学会
    • Related Report
      2022 Annual Research Report
  • [Presentation] 新生児マススクリーニング検査実施後に長期冷蔵保存されている乾燥濾紙血のアミノ酸、遊離・アシルカルニチンの安定性の検討2021

    • Author(s)
      島田祐美 川野奈々江 井原健二
    • Organizer
      第113回日本小児科学会大分地方会
    • Related Report
      2020 Research-status Report

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Published: 2018-04-23   Modified: 2024-01-30  

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