1996 Fiscal Year Final Research Report Summary
A Biochemical and Genetic Study on GSD III
| Project/Area Number |
06670836
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nihon University |
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Principal Investigator |
OWADA Misao Nihon Univ.School of Medicine, Associate Professor, 医学部, 助教授 (40059506)
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| 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)
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| Project Period (FY) |
1994 – 1996
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| Keywords | GSD III / debranching enzyme / amylo-1,6-glucosidase / myocardiac failure / hepatic failure / gene mutation |
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| 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.
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