A NEW MUTATION OF THE GLUCOSE-6-PHOSPHATASE GENE IN A 4-YEAR-OLD GIRLWITH OLIGOSYMPTOMATIC GLYCOGEN-STORAGE-DISEASE TYPE 1A

A 4-year-old German girl was diagnosed as having glycogen storage dise ase type la and showed no other marked symptoms except hepatomegaly. T he glucose-6-phosphatase activity in the higher was approximately 1.5% to 5.0% of normal values, and molecular analysis revealed compound he terozygosity for R83C and the novel mutation N264K. This result indica tes that there is a wide clinical variation of glucose-6-phosphatase d eficiency. DNA analysis is helpful for confirmation of the diagnosis, as well as establishment of the genotype and phenotype correlation in glycogen storage disease type 1a.