| A case of glycogen storage disease type Ia performed molecular genetic analysis |
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Heon Ju Lee, Jong Ryul Eun, Byung Ik Jang, Jung Hoon Lee, Hyoung Woo Lee, Joon Hyuk Choi, Chang Suk Ki |
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한림의대 한강성심병원 내과 |
| 증례 : 유전자 분석을 시행한 당원병 Ia형 1예 |
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이헌주, Jong Ryul Eun, Byung Ik Jang, Jung Hoon Lee, Hyoung Woo Lee, Joon Hyuk Choi, Chang Suk Ki |
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| Abstract |
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Glycogen storage disease type Ia is caused by a deficiency of glucose-6-phosphatase (G6PC), which leads to glycogen accumulation in many organs including liver. We could diagnose a case of glycogen storage disease type Ia with molecular genetic analysis. A 17-year-old man visited Yeungnam university hospital because of abdominal discomfort. Clinical features were characterized by short stature, hepatosplenomegaly, accompanying hypoglycemia, hypercholesterolemia,
hyperuricemia. Liver needle biopsy disclosed compatible findings of glycogen storage disease. Molecular genetic analysis of the G6PC gene was performed by direct sequencing method. We identified two mutations within the exon 5 of the G6PC gene, 727G>T and 743G>A. We report this rare case with a review of the literature.
Key Words : Glycogen storage disease type Ia, Gene analysis |
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