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KMID : 0356620110260010084
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Journal of Korean Society of Endocrinology
2011 Volume.26 No. 1 p.84 ~ p.88
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A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital
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Lee Tae-Woong
Rhee Sang-Youl
Kim Joo-Young
Kim Gu-Hwan
Yoo Han-Wook
Woo Jeong-Taek
Kim Byung-Ho
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Abstract
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We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.
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KEYWORD
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Glycogen storage disease, Chromosomal disorders, Hepatomegaly, Adenoma, Liver cell
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