Endocrinol Metab > Volume 26(1); 2011 > Article
Endocrinology and Metabolism 2011;26(1):84-88.
DOI: https://doi.org/10.3803/EnM.2011.26.1.84    Published online March 1, 2011.
A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital.
Tae Woong Lee, Sang Youl Rhee, Joo Young Kim, Gu Hwan Kim, Han Wook Yoo, Jeong Taek Woo, Byung Ho Kim
1Department of Internal Medicine, Incheon Christian Hospital, Incheon, Korea. bard95@hanmail.net
2Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea.
3Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea.
4Department of Internal Medicine, Dongsuwon Hospital, Suwon, Korea.
5Medical Genetics Clinic and Laboratory, Asan Medical Center, Seoul, Korea.
6Department of Pediatrics, University of Ulsan College of Medicine, Seoul, Korea.
7Department of Gastroenterology and Hepatology, Kyung Hee University School of Medicine, Seoul, Korea.
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.
Key Words: Glycogen storage disease, Chromosomal disorders, Hepatomegaly, Adenoma, Liver cell

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