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.
case_report · Level V
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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.
Medical subject headings
- Adenoma
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Liver Neoplasms
- Mutation
- Neoplasms, Multiple Primary