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1996 Fiscal Year Final Research Report Summary

A Biochemical and Genetic Study on GSD III

Research Project

Project/Area Number 06670836
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionNihon University

Principal Investigator

OWADA Misao  Nihon Univ.School of Medicine, Associate Professor, 医学部, 助教授 (40059506)

Co-Investigator(Kenkyū-buntansha) NAKABAYASHI Hiroki  Nihon Univ.School of Medicine, Instructor, 医学部, 助手 (50237369)
TSUDA Masahiko  Nihon Univ.School of Medicine, Instructor, 医学部, 助手 (20227416)
Project Period (FY) 1994 – 1996
KeywordsGSD III / debranching enzyme / amylo-1,6-glucosidase / myocardiac failure / hepatic failure / gene mutation
Research Abstract

Biochemical and molecular study as well as a clinical investigation of 10 cases with glycogen storage disease (GSD) type III was carried out. The diagnosis of type III GSD (GSD III) was made by clinical signs and symptoms such as hepatomegaly, hypoglycemic attack and short stature with decreasing activity of glycogen debranching enzyme in biopsy samples of liver and muscle as well as in erythrocytes or leukocytes. Determination of glycogen content in tissue and erythrocytes was also carried out for the diagnosis of GSD III.In some cases gene analysis using glycogen debranching enzyme cDNA was added.
GSD III is divided into 3 subtype and about 80% of all cases are classified as type IIIa, which involves not only the liver but also the muscle. We concluded that all 10 cases were type IIIa because decreasing activity of debrancher were shown in both liver and muscle and serum CK level was markedly increased in all cases
GSD III is one of the most common form of GSD and thought to be a benign form compared to GSD I.However, our results suggests that the long term prognosis of type IIIa is poorer than GSD I because 3 patients have already died in the 4th decade from cardiac and hepatic failure. In addition 2 patients of the 3rd decade showes muscle weakness and abnormal cardioechogram. The deletion of the debrancher gene was found in one female case, and this mutation resembled one reported case of a sever form of type IIIa. Although the relationship between the clinical form and the gene mutation in GSD III is unclear, further investigations are required in order to clarify the long term prognosis of GSD III.

  • Research Products

    (11 results)

All Other

All Publications (11 results)

  • [Publications] 垂井 清一郎 他8名、大和田 操: "肝型糖原病検査における遺伝子組変えグルカゴン(GL-G)の臨床評価" 基礎と臨床. 30(4). 749-762 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 大和田 操 他2名: "シスチン尿症の臨床遺伝学的研究" 日本臨床代謝学会記録. 33. 31 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 大和田 操 他2名: "わが国における小児科発症NIDDMの実態" 小児内科. 28(6). 823-828 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsuda, M, Owada, M他2名: "A neuly identifide exonic mutation of the WT1 gene in a patient with Denys-Drashsyndrome." Acta Paediat Jan.38. 265-266 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 大和田 操 他2名: "診断と治療に苦慮したテトラヒトロビオプテリン欠乏症の1例" 特殊ミルク情報. 32号. 5-7 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 中林 啓記、大和田 操 他4名: "糖原病III型におけるグリコーゲン脱分子枝酵素の変異" 日本先天代謝異常学会雑誌. 12(2). 270 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Kitagawa, M.Owada, et al: "Epidemiology of type 1 (insulin dependent) and type 2 (non-insulin dependent) diabetes mellitus in Japanese children" Diabetes Research and Clinical Care. 24 Suppl. S7-S13 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] A.Ashida, M.Owada, K.Hatakeyama: "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia" Genomics. 24. 408-410 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] M.Takamura, M.Owada, et al: "Type la glycogen storage disease with focal nodular hyperplasia in siblings" Acta Paediatr.Jpn.37. 510-513 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] M.Tsuda, M.Owada, et al: "A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome" Acta Paediatr.Jpn.38. 265-266 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Nakabayashi, M.Owada, et al: "Gene mutation of glycogen debranching enzyme in two cases with GSD III" J.Soc.for Inher.Metab.Dis.13. 270 (1997)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1999-03-16  

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