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New organic acid analysis for inherited organic acidemia

Research Project

Project/Area Number 07670922
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKurume University School of Medicine

Principal Investigator

YOSHIDA Ichiro  Kurume University School of Medicine, Research Institute of Medical Mass Spectrometry, Associate Professor, 医学部, 助教授 (20182751)

Co-Investigator(Kenkyū-buntansha) ARAMAKI Shuichi  Kurume University School of Medicine, Department of Pediatrics and Child Health,, 医学部, 講師 (30211014)
INOKUCHI Takahiro  Kurume University School of Medicine, Research Institute of Medical Mass Spectro, 医学部, 講師 (00191891)
Project Period (FY) 1995 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,400,000 (Direct Cost: ¥2,400,000)
Fiscal Year 1997: ¥400,000 (Direct Cost: ¥400,000)
Fiscal Year 1996: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1995: ¥1,000,000 (Direct Cost: ¥1,000,000)
Keywordscongenital organic acidemia / Reverse search method / Liquid partition chromatography / 確認用診断システム / 診断自動化 / 珪酸カラム液体分配クロマトグラフィー
Research Abstract

Screening urine for inherited organic acidemia required complex and time consuming method.
We have developed new organic acid analysis uring liquid partition chromatography. and gas chromatography mass spectrometry. This system was connected with reverse-search method using personal computor. This method enabled to abolish the mistakes due to manual procedure and save time. Maximal sensitivity is also due to liquid partition chromatography using silicic column liquid partition chromatography. Using this method, we found many patients with inherited organic acidemia and urea cycle disorders. This method was especially useful for the detection of methylcitric acid and other polar compound. Conventional method using organic solvent extraction used to fail the detection of polar cpmpounds.
Because methylmalonic acidemia and propionic acidemia are major organic acidemia, the accurate detection and quantification is critically important for the diagnosis.

Report

(4 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • 1996 Annual Research Report
  • 1995 Annual Research Report
  • Research Products

    (52 results)

All Other

All Publications (52 results)

  • [Publications] Hiroko Soda: "Prenatal diagnosis and therapy for a patient with vitamin B_<12>-responsive methylmalonic acidaemia" Journal of Inherited Metabolic Disease. 18. 295-298 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 青木 久美子: "先天性有機酸血症スクリーニングのためのGC/MSによる尿中有機酸自動分析の試み" 日本マス・スクリーニング学会誌. 5・2. 75 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 曽田 浩子: "腎不全を伴うメチルマロン酸血症患者の血中および尿中メチルマロン酸値" 日本医用マススペクトル学会講演集. 20. 181-183 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 曽田 浩子: "メチルマロン酸血症腎不全患者におけるメチルマロン酸の動態" 日本先天性代謝異常学会雑誌. 11・2. 84 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 曽田 浩子: "胎内死亡時のメチルマロン酸血症の出生前診断" 日本先天性代謝異常学会雑誌. 11・2. 95 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Furosemide versus thiazide in Gordon syndrome" European Journal of Pediatrics. 155・7. 621 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Hiroko Soda: "Renal handling of methylmalonic acid in a uraemic patient with vitamin B_<12>-unresponsive methylmalonic acidaemia" Journal of Inherited Metabolic Disease. 19. 90-91 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "先天性代謝異常症「メチルマロン酸血症」" 小児内科-小児疾患診療のための病態生理1-. 28. 277-280 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "カルニチン-有機酸血症治療薬-" 小児科診療. 60・11. 1918-1919 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 青木 久美子: "皮膚所見に乏しい遅発型ホロカルボキシラーゼ合成酵素欠損症の一例" 日本先天代謝異常学会雑誌. 13・3. 472 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 280-309 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 314-322 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 325-327 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "有機酸 グリセロール代謝異常" 別冊 日本臨牀 先天代謝異常症候群. 上. 376-383 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Yasutoshi Koga: "Maple syrup urine disease:Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip." Journal of Inherited Metabolic Disease. (in press). (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "最新内科学大系 糖質・アミノ酸代謝異常-分枝有機酸代謝系-" 井村裕夫、尾形悦郎、高久史麿、垂井清一郎, 13 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "「今日の小児治療指針 11版」その他の有機酸血症" 矢田純一、柳澤正義、山口規容子, 1 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田 一郎: "「小児科学」脂肪酸代謝異常症" 白木和夫、前川喜平, 4 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Hiroko Soda, Ichiro Yoshida et al: "Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia" J Inher Metab Dis. 18. 295 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Kumiko Aoki Yoshida et al: "Automated analysis of urinary organic acids for the screening of inherited organic acidemia (in Japanese)" Japanese J Mass Screening. 5. 75 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Hiroko Soda, Ichiro Yoshida et al: "Blood and urinary levels of methylmalonic acid in uremic patient with methylmalonic acidemia (in Japanese)" Proc Japanese Soc Biomed Mass Spectr. 20. 181 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Methylmalonic acidemia (in Japanese)" Shouninaika. 28. 277 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida, Yasuyuki Tokunaga, Rumi Yamakawa and Hirohisa Kato: "Furosemide versus thiazide in Gordon syndrome" Eur J Pediatr. 155. 621 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Hiroko Soda, Shigenori Yukizane, Ichiro Yoshida, Yasutoshi Koga, Shuichi Aramaki and Hirohisa Kato: "A Point mutation in exon 3 (His 107-Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement" Hum Genet. 97. 435 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Carnitine as therapeutic vehicle for organic acidemia (in Japanese)" Shounikasinryou. 60. 1918 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Kumiko Aoki, Ichiro Yoshida et al: "Late-onset holocarboxylase synthetase deficiency lacking skin manifestations (in Japanese)" J Japanese Society for Inher Metab Dis. 13. 472 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Hiroko Soda, Ichiro Yoshida, Shuichi Aramaki, Norikazu Kuriya, Kumiko Aoki, Takahiro Inokuchi, Makoto Yoshino and Hirohisa Kato: "Renal handling of methylmalonic acid in a uraemic patient with vitamin B 12 unresponsive methylmalonic acidaemia" J Inher Metab Dis. 19. 90 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Fatty acid oxidation defects in K Shiraki and K Maekawa eds Shonikagaku (in Japanese)" Igaku-shoin Tokyo. (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Branched chain organic aciduria (in Japanese)" Nihonrinshou, Special Issue. 280. (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Disorder of glycerol metabolism (in Japanese)" Nihonrinshou. Special Issue. 376. (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Branched chain organic aciduria (in Japanese)" Nihonrinshou, Special Issue. 280. (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ichiro Yoshida: "Disorder of glycerol metabolism (in Japanese)" Nihonrinshou. Special Issue. 376. (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Yasutoshi Koga, Tomohisa Iwanaga, Ichiro Yoshida et al: "Maple syrup urine disease : Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip" J Inher Metab Dis. (in Press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 吉田一郎: "カルニチン-有機酸血症治療薬-" 小児科診療. 60・11. 1918-1919 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 青木久美子: "皮膚所見に乏しい遅発型ホロカルボキシラーゼ合成酵素欠損症の一例" 日本先天代謝異常学会雑誌. 13・3. 472 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 280-309 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 314-322 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "有機酸 分枝有機酸尿症" 別冊 日本臨牀 先天代謝異常症候群. 上. 325-327 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "有機酸 グリセロール代謝異常" 別冊 日本臨牀 先天代謝異常症候群. 上. 376-383 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] Yasutoshi Koga: "Maple syrup urine discase:Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip." Journal of Inherited Metabolic Disease. (in press). (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "「今日の小児治療指針 11版」その他の有機酸血症" 矢田純一,柳沢正義、山口規容子, 1 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 吉田一郎: "「小児科学」脂肪酸代謝異常症" 白木和夫,前川喜平, 4 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ichiro Yoshida: "Furosemide versus thiazide in Gordon syndrome" European Journal of Pediatrics. 155. 621- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Hiroko Soda: "Renal handling of methylmalonic acid in'a uraemic patient with vitamin B_<12>-unresponsive methylmalonic acidaemia" Journal of Inherited Metabolic Diseases. 19. 90-91 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 吉田 一郎: "先天性代謝異常症「メチルマロン酸血症」" 小児内科-小児疾患診療のための病態生理-1-. 28. 277-280 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 吉田 一郎: "最新内科学大系 糖質・アミノ酸代謝異常-分枝有機酸代謝系-" 井村裕夫、尾形悦郎、高久史磨、垂井清一郎, 13 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Hiroko Soda: "Prenatal diagnosis and therapy for a patient with vitamin B_<12>-responsive methylmalonic acidaemia" Journal of Inherited Metabolic Diseases. 18. 295-298 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Hiroko Soda: "Renal handling of methylmalonic acid in a uraemic patient with vitamin B_<12>-unresponsive methylmalonic acidaemia" Journal of Inherited Metabolic Diseases. (in press). (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] 青木久美子: "先天性有機酸血症スクリーニングのためのGC/MSによる尿中有機酸自動分析の試み" 日本マス・スクリーニング学会誌. 5. 75- (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 曽田浩子: "腎不全を伴うメチルマロン酸血症患者の血中および尿中メチルマロン酸値" 日本医用マススペクトル学会講演集. 20. 181-183 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 曽田浩子: "メチルマロン酸血症腎不全患者におけるメチルマロン酸の動態" 日本先天代謝異常学会雑誌. 11. 84- (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 曽田浩子: "胎内死亡時のメチルマロン酸血症の出生前診断" 日本先天代謝異常学会雑誌. 11. 95- (1995)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2016-04-21  

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