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Study on Biochemical Abnormalities of Congenital organic aciduria

Research Project

Project/Area Number 59440045
Research Category

Grant-in-Aid for General Scientific Research (A)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTOHOKU UNIVERSITY

Principal Investigator

TADA Keiya  Tohoku University School of Medicine, 医学部, 教授 (20046907)

Co-Investigator(Kenkyū-buntansha) ISHIZAWA Shinobu  Tohoku University School of Medicine, 医学部附属病院, 講師 (60158748)
NARISAWA Kuniaki  Tohoku University School of Medicine, 医学部, 助教授 (90004647)
Project Period (FY) 1984 – 1986
Project Status Completed (Fiscal Year 1986)
Budget Amount *help
¥25,000,000 (Direct Cost: ¥25,000,000)
Fiscal Year 1986: ¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 1985: ¥5,000,000 (Direct Cost: ¥5,000,000)
Fiscal Year 1984: ¥16,000,000 (Direct Cost: ¥16,000,000)
KeywordsOrganic acidemia / Multiple carboxylase deficiency / Ketotic hyperglycinemia / Lactic acidosis Propicnic acidemia / Methylmalonic acidemia / メチルグルタコン酸尿症 / 高乳酸血症 / チトクロームCオキシダーゼ欠損症 / ピルビン酸脱炭酸酵素欠損症 / 3-メチルグルタコン酸尿症 / 3-メチルグルタコニルCoAヒドラターゼ
Research Abstract

We studied on biochemical abnormalities of multiple carboxylase deficiency, ketotic hyperglycinemia ,methylglutaconic aciduria and lactic acidosis.
1)Multiple carboxylase deficiency: Fibroblasts and leukocytes from the patient were found to have a deficiency of ACC,cytosolic enzyme,as well as PCC,MCC and PC, which are mitochondrial enzymes. We suggested that the primary defect in this disorder was in the holocarboxylase synthetase. 2) Ketotic hyperglycinemia : We suggested that the reduction of the glycine cleavage system in the liver of ketotic hyperglycinemia occured secondarily and was caused mainly by a decrease of H-protein activity. 3) Methylglutaconic aciduria : We developed a new assay for 3 methylglutaconyl CoA hydratase in which the substrate,[5- <^(14)C> ]3-methylglutaconyl CoA,was synthesized using 3 methylcrotonyl CoA carboxylase. In the two patients the enzyme activities were 2[3% of normal. 4) Lactic acidosis: An enzymatic study of cultured skin fibroblasts was 56 patoents with lactic acidosis. In eight of the patients pyruvate decarboxylase (PDC) deficiency was found. The reduction of cytochrome c oxidase was demonstrated in six of the patients. It was suggested that the patients with severe PDC deficiency developed Leigh's disease but those with mild deficiency might not. Two siblings with cytochrome c oxidase deficiency was diagnosed as having Leigh's disease and seemed to be the first case of a generalized defect in cytochrome c oxidase.

Report

(2 results)
  • 1986 Final Research Report Summary
  • 1985 Annual Research Report
  • Research Products

    (10 results)

All Other

All Publications (10 results)

  • [Publications] Miyabayashi.S et al: Brain l Pcvelopment. 6. 362-372 (1984)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] 成澤邦明: ビタミン. 59. 605-613 (1985)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] 成澤邦明: 脳神経. 37. 1108-1109 (1985)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] Miyabayashi S et al: Eur.J.Pedistr.143. 278-283 (1985)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] 成澤邦明: 日本先天代謝異常学会雑誌. 1. 1-10 (1985)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] Narisawa K.et al: J.Clin.Invest.77. 1148-1152 (1986)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] Miyabayashi ;Narisawa K.; Iinuma K.; Tada K.; Sakai K. et al.: "Cytochrome c oxidase deficiency in two siblings with Leigh encephalomyelopathy." Brain & Development.6. 362-372 (1984)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] Miyabayashi S.; Ito T.; Narisawa K.; Iinuma K.; Tada K.: "Biochemical study in 28 children with lactic a cidosis with relation to Leigh's encephalomyelopathy." Eur. J. Pediatr.143. 278-283 (1985)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] Narisawa K.; Gibson K.M. ; Scoeetman L.; Nyhan W.L. et al.: "Deficiency of 3-methylglutaconyl-Coenzysue A Hydratast in Two Siblings with 3-Methylglutaconic Aciduria" J. Clin. Invest.77. 1148-1152 (1986)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1986 Final Research Report Summary
  • [Publications] K.ヒドラタゼJ.Clin.Invest.

    • Related Report
      1985 Annual Research Report

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Published: 1987-03-31   Modified: 2016-04-21  

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