A case of glycogen storage disease type ia with multiple hepatic adenomas and g727t mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported

Abstract

We report a case of 23-yr-old man with glycogen storage disease (GSD) type Ia complicated by multiple hepatic adenomas. Analysis of the G-6-Pase gene using peripheral blood sample showed this patient to be homozygous for a G-to-T transversion at nucleotide 727 in exon 5. This mutation is prevalent among Japanese patients, suggesting that specific genotypes may correlate with different clinical courses or outcomes.