• Journal of Yeungnam Medical Science
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• v.14 no.1
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• pp.46-52
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• 1997

Diaphragm is thought to play the most important role in breathing and has a substantially greater proportion of slow oxidative and fast glycolytic fibers, and low proportion of fast oxidative fibers. The respiratory muscle, diaphragm, has the functional characteristics of slow speed of contraction, high resistance to fatigue and the ability to respond to intermittent ventilatory loads, for example of exercise. In the present study, the characteristics of the metabolism (depletion and repletion) of glycogen and the structural changes of diaphragm during depletion and repletion of glycogen were observed in rats. For comparison, the red gastrocnemius muscle which has a greater proportion of fast oxidative glycolytic (FOG) and slow oxidative (SO) fibers, and low proportion of fast glycolytic (FG) fiber, was also studied. The glycogen concentration of diaphragm in overnight fasted rats was $2.30{\pm}0.14mg/gm$ wet weight. The values of glycogen concentration at 60, 90 and 120minutes of treadmill exercise loaded rats was significantly decreased compared to that of the overnight fasted rats. There was no significant difference among the glycogen concentrations of diaphragm at 60, 90 and 120minutes of exercises. The glycogen concentration of diaphragm was decreased to $1.12{\pm}0.17$ from $2.30{\pm}0.14mg/gm$ wet weight by treadmill exercise. The glycogen depletion rate of diaphragm during exercise was faster than that of red gastrocnemius in both of the first 60minutes and 120minutes duration of exercise. The glycogen repletion of diaphragm after intragastric glucose administration by stomach tube was studied in control and exercise groups. The glycogen concentration was significantly increased after glucose administration in both of control and exercise groups. All of the concentration of exercise group at 60, 120 and 180minutes after glucose administration was significantly higher than those of control group. In conclusion, one of the characteries of diaphragm in glycogen metabolism is fast glycogen depletion during exercise, and slowness of glycogen repletion after glucose ingestion in rats.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.24-28
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• 2020

Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.8-14
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• 2023

The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Journal of Yeungnam Medical Science
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• v.14 no.1
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• pp.137-154
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• 1997

The aim of the present investigation has, been to evaluate the depletion pattern of the supercompensated glycogen of hindlimb muscles during strenous exercise in rats. The plan of the maximizing muscle glycogen stores is based on the fact that a glycogen-depleted muscle by exercise will have an increased avidity for glycogen when exposed to a high carbohydrate diet. The glycogen concentration of soleus, red gastrocnemius and plantaris muscle, and liver was measured at 0, 30 and 60 minutes during treadmill exercise. The experimental animals were divided into 5 group - Normal(N), Control(C), 1Hour(1HR:after 1hour of glucose ingestion), 2Hour(2HR:after 2hour of glucose ingestion) and Exercise-1Hour(EX-1HR:glucose ingestion after 1 hour of preloading treadmill exercise)group - for glycogen storage study. The glycogen concentration of soleus, red gastrocnemius and plantaris muscles in N group was $4.57{\pm}0.34$, 5.11+0.24 and $6.55{\pm}0.20mg/gm\;wet\;wt.$, respectively. The glycogen concentration of soleus and red gastrocnemius in EX-1HR group were about 1.9 and 1.8 times than that of N group, respectively, but the concentration of plantaris was not higher than that of N group. The glycogen concentration of liver in N group was $41.0{\pm}1.47mg/gm\;wet\;wt.$ and the concentration of the overnight fasted C group was only 2.9% of the value of N group. The level of glycogen concentration of liver in the other glucose ingested groups(1HR, 2HR, including EX-1HR) was within 19 - 32% of that of N group. The blood glucose concentration of EX-1HR group was higher than that of N group, the plasma free fatty acid concentration of C and 2HR group was higher than that of N group, and the plasma insulin concentration of EX-1HR group was higher than that of N group. The concentrations of supercompensated glycogen of soleus and red gastrocnemius were rapidly decreased during 30 minutes of exercise but there was almost no changes of the concentration during the other 30 minutes of continuing exercise. The concentration of N group during 30 minutes of exercise was decreased but more slowly than those of EX-1HR group. The remaining level of glycogen after 60 minutes of exercise in EX-1HR group was higher than that of N group. Taken together, the mobilization of endogenous muscle glycogen at the first stage of exercise was proportioned to the initial level of glycogen concentration, and later on, when exercise continued, the muscle glycogen level was stabilized. And the remaining level of supercompensated muscle glycogen after 60 minutes of exercise was higher than that of normally stored glycogen level. The mobilization of the glycogen stroed in slow and fast oxidative muscle fibers is faster than in the fast glycolytic muscle fibers during strenous exercise.

• Korean Journal of Legislative Studies
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• v.17 no.3
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• pp.145-170
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• 2011

당원중심 정당조직이 약화되고 있는 정당정치 변화추세 및 진성당원이 절대 부족한 실정에서 의원이나 원외위원장에 의해 동원되고 있는 당원들이 참여하는 경선의 현실적인 한계를 고려한다면, 당원 이외 유권자도 참여하는 보다 개방적인 경선을 지향할 수밖에 없는 상황이다. 이번에 국민경선의 확대내지는 제도화를 목표로 중앙선관위 및 한나라당과 민주당의 개혁특위가 제시하고 있는 공천안, 특히 모든 유권자가 참여할 수 있는 여야 동시 완전국민경선안은 선거인단을 모집하여 실시하는 기존의 제한적 국민경선보다 불공정한 동원, 역선택 등의 문제 해결에 도움이 되리라 본다. 하지만 여전히 해소되야 할 경선 공정성과 관련된 구조적인 문제는 경선이 치러지는 지역의 정당조직이 비민주적으로 운영되는 데에서 비롯되는 경선 후보들 간의 불균형 문제이며, 전략공천이라는 형태로 치러지는 사실상 하향식 공천 역시 경선 공정성을 크게 훼손할 소지가 있으므로 정당의 전략공천 비율은 더욱 축소되어야 할 것이다. 2012년 총선이 임박한 상황에서 현실적으로 무엇보다 시급한 것은 한나라당, 민주당 모두 공천제도 개혁안을 조속히 확정하고 선관위안을 법제화하는 일이며, 이를 통하여 유권자가 참여하는 정당경선의 제도화가 이루어질 때 최근 시민후보의 등장과 같은 시민사회의 도전으로부터 비롯된 정당정치의 위기상황을 더욱 새로운 정당정치로 나아가는 계기로 전환시키는 일도 보다 용이해 질 것이다.

• Journal of Yeungnam Medical Science
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• v.15 no.1
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• pp.29-35
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• 1998

Rats were studied during 45 minutes treadmill exercise to determine the effects of hyperglycemia and hyperlipidemia on the utilization of cardiac muscle glycogen, and the utilization of diaphragm muscle glycogen was also studied for comparing to cardiac muscle. The hyperglycemia was produced by ingestion of 25% glucose solution(lml/100gm, BW) and the hyperlipidemia by 10% intralipose ingestion(lml/l00gm, BW) with intraperitoneal injection of heparin(500 IU) 15 minutes before treadmill exercise. The mean blood glucose concentrations(mg/dL) in control and hyperglycemic rats were 110 and 145, respectively, and the mean plasma free fatty acid concentrations(${\mu}Eq/L$) in control, control exercise(control-E) and hyperlipidemia exercise(HL-E) rats were 247, 260 and 444, respectively. In the hyperglycemic trial, the cardiac muscle glycogen concentration was not significantly decreased by the exercise but the concentration in control rats was decreased to 73.9%(p<0.05). The glycogen concentration of diaphragm was significantly decreased in both groups by the exercise, but the hyperglycemia decreased the glycogen utilization by approximately 10% compared to the control. The cardiac muscle glycogen concentration was not decreased by the exercise in control and hyperlipidemic rats but the utilization of glycogen in hyperlipidemic rats is lower than that of the control. These data illustrate the sparing effect of hyperglycemia on cardiac muscle glycogen usage during exercise, but the effect of hyperlipidemia was not conclusive. In the skeletal muscle, the usage of glycogen by exercise was spared by both hyperglycemia and hyperlipidemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.142-149
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• 2014

Purpose: There are 15 types of Glycogen storage disease (GSD) that have been identified, and GSD type Ia is the most common type. There are several studies of Korean GSD type Ia patients' long-term complications. The aim of this study to find out clinical symptoms and prognosis of GSD type Ia patients. Methods: We performed clinical, biochemical and genetic analysis retrospectively on five patients diagnosed with GSD type Ia in a Soonchunhyang University Hospital from July 2002 to July 2014. Results: All patients had hepatomegaly at diagnosis, and they were all confirmed to have fatty liver at abdomen USG. They had no developmental delay, but two of them had growth retardation. Elevated blood lactate, triglyceride, and uric acid levels can find out all patients, but only one patient had hypoglycemia. They are diagnosed with GSD through gene analysis, and by gene analysis, they have c.648G>T (homozygote, splicing mutation), c.122G>A/c.648G>T, c.248G>A/c.648G>T mutations. Treatment with three times meals, three times snacks and four to six times use of uncooked constarch for all patients. Following the progress, one of them resulted in hypothyroidism, other one had renal stones. A patient diagnosed at 16 years old had liver cirrhosis and started having hemodialysis for ESRD. Conclusion: GSD type Ia patients had hepatomegaly, hyperlipidemia, hyperuricemia, and lactacidemia. Therefore patients who have such these symptoms are recommended gene analysis. A patient diagnosed at 16-years-old had liver cirrhosis and ESRD in progress, early diagnosis and treatment are important for GSD type Ia patients.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.6 no.2
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• pp.129-139
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• 2003

Purpose: The aim of the study was to evaluate the long-term outcome of glycogen storage disease (GSD) type 1 with particular reference to hepatic adenoma and hepatocellular carcinoma, and to analyze risk factors affecting the development of hepatic adenoma in GSD type 1. Methods: Forty-three GSD type 1 patients (31 males and 12 females, mean age $13.9{\pm}6.4$ years) were analyzed retrospectively. Hepatic adenoma was detected on abdominal USG and diagnosed on histologic examination. Clinical profiles were compared between patients with hepatic adenoma (n=16) and age-matched controls without hepatic adenoma (n=16). Results: 1) Of 43 GSD type 1 patients, 16 (37.2%) had hepatic adeoma. Hepatic adenoma was detected at the age of mean $14.2{\pm}4.1$ years (range: 7.9~25.7 years). Fourteen (87.5%) adenomas were multiple at detection. 2) Comparison of the clinical profiles between adenoma group and non-adenoma group revealed that age at first introduction of uncooked cornstarch treatment was significantly late in adenoma group compared with non-adenoma group ($9.1{\pm}5.2$ years vs. $3.0{\pm}1.8$ years, p=0.003). Portocaval shunt surgery was performed in 11 (68.8%) patients in adenoma group and 3 (18.8%) in non-adenoma group (p=0.004). Hepatic adenoma developed mean $5.8{\pm}4.2$ years after shunt operation. 3) One patient was diagnosed as hepatocellular carcinoma at the age of 25.7 years. Conclusion: Hepatic adenoma is an important late complication of GSD type 1 with the risk of malignant transformation. Early introduction of cornstarch therapy with strict metabolic control is needed to prevent the development of hepatic adenoma in GSD type 1.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.108-112
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• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.