Molecular analysis of glycogen storage disease type I.

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Authors

VRÁBELOVÁ S. KOZÁK Libor ZEMAN J. ŠŤASTNÁ S.

Year of publication 2007
Type Article in Proceedings
Conference Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords Glykogen Storage Disease type I (GSD I); G6PT1 gene
Description Glycogen storage disease type I (GSD I) comprises a group of autosomal recessive disorders of glycogen metabolism. The most common form of GSD I, GSD Ia, is caused by mutations in G6PC gene, that encodes the enzyme glucose-6-phosphatase. GSD Ib is due to deficit of the glucose-6-phosphate translocase (G6PT1 gene). This study presents the results of mutation analysis in 21 GSD I patients from 19 unrelated families (12 from Czech Republic, 6 from Slovakia and 1 from Spain). Seventeen patients were identified as a GSD Ia type. A total of 10 different mutations were found in the G6PC gene. The most common mutation, p.R83C, accounted for 50% of all GSD Ia alleles. The frequency of the second most prevalent mutations, p.Q347X, was 16%. No mutations were identified in G6PC gene in four patients. Consecutively, a mutation analysis of G6PT1 gene was performed in four G6PC negative patients. Two patients were homozygotes for the c.1042_1043delCT mutation. One patient was compound heterozygote for the c.1042_1043delCT and p.H301P mutation. The last patient was heterozygote for the c.1042_1043delCT and still In conclusion, the molecular genetic analysis presented in this study is a noninvasive, highly efficient and reliable method for the prompt diagnosis of GSD Ia and GSD Ib. It appears to be a convenient alternative to enzyme studies in liver tissue obtained by biopsy.
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