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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 |
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| Authors: | Yasuyuki Karasawa M.D. Masakazu Kobayashi M.D. Yoshiyuki Nakano M.D. Yuji Aoki M.D. Shigeyuki Kawa M.D. Kendo Kiyosawa M.D. Hitoshi Seki M.D. Seiji Kawasaki M.D. Kenichi Furihata M.D. Nobuo Itoh M.D. |
| Affiliation: | 2nd Department of Internal Medicine, Shinshu University, School of Medicine, Matsumoto Japan;Department of Internal Medicine, Kiso Prefectural Hospital, Kiso-FukushimaJapan;1st Department of Surgery Shinshu University, School of Medicine, Matsumoto, Japan;Department of Laboratory Medicine Shinshu University, School of Medicine, Matsumoto, Japan;1st Department of Pathology, Shinshu University, School of Medicine, Matsumoto, Japan |
| 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. |
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