Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
1,4-alpha-Glucan Branching Enzyme* ; Clinical Coding ; Glycogen Storage Disease Type IV ; Glycogen Storage Disease* ; Glycogen* ; Liver Diseases ; Liver Transplantation

This study examined the roles of the initial level of muscle glycogen content and available substrate on glycogen repletion in muscle. The rats were randomly assigned to normal, starvation and exercise groups. The glycogen content of muscle was lowered by starvation and exercise for the purpose of this experiment. The normal rats remained sedentary in their cage without any restriction of food and water. The exercise and starvation groups were divided each group into two subgroups depending on the degree of stress, i.e. 16 and 64 hours starvation, and 30 minutes and 2 hours exercise loading. All experimental aninals sacrificed 9~10 O'clock in the morning. The glycogen content of gastrocnemius and liver were 0.416+0.0433 and 1.70+0.410gm/100gm wet tissue in normal rats, respectively. The glycogen content of gastrocnemius in stravaton groups was reduced to 83.5 and 75.5% of the values of normal groups by starvation for 16 and 64 hours, respectively. In exercise group, the content of glycogen was reduced to 63.7 and 49.8% of the normal group by 30 minutes and 2 hours exercise loading, respectively, After above exercise loading and forced starvation, glucose, 2.0gm/100gm body weight was ingested, and 2 hours later the glycogen content was determined to evaluate the role of initial level of muscle glycogen content on the repletion in gastrocnemius, and the different amount of glucose, 1.0, 1.5 and 2.0mg/100gm body weight, was given orally, and 2 hours later the glycogen content of gastrocnemius was determined to evaluate the role of available substrate on the glycogen repleted in muscle of the lowest initial glycogen content, and the larger the amount of glucose ingestion, the larger amount of glycogen repletion in muscle. The experiment demonstrates that the reducing level of muscle glycogen and increased amount of available substrate are the important factors for the acceleration of muscle glycogen repletion, and in the aspect of repletion of glycogen, the repletion rate of liver glycogen is 2~5 times faster than that of muscle, whereas there is no difference of repletion rate of liver glycogen between starvation and exercise groups.
Acceleration ; Animals ; Body Weight ; Eating ; Glucose ; Glycogen ; Liver ; Liver Glycogen ; Muscle, Skeletal ; Rats ; Starvation ; Water

The muscle glycogen is an important energy source for muscle contraction especially in prolonged exercise. One of the important factors for improvement of physical performance in athletes is the storage of extra-amount of glycogen (supercompensation) in liver and muscles. During 120 minutes treadmill exercise (intensity of exercise was approximatly 80% VO2max), the glycogen concentration was significantly decreased to 36% in liver and 46% in muscles after 60 minutes exercise. At 90 and 120 minutes of exercise, the level of glycogen concentration of liver and muscles statistically were not different from the levels of the 60 minutes exercise. The repletions of glycogen in the liver and muscles in overnight fasted control(C) and 120 minutes treadmill exercise(E) groups during l80minutes after glucose ingestion were investigatect. ln the liver, the concentration of glycogen in C and E groups were markdly increased till 120 minutes after zlucose ingestion, hut the levels of concentration at 180 minutes were decreased comparing to the levels of 120 minutes in both groups. In the muscles, the repletion of glycogen at 60, 120 and 180 minutes of C and E groups were significantly increased comparing to 0 minute of respective groups in the soleus and plantaris muscles. In soleus(SOL), the repletion of glycogen in all of the E groups was significantly higher than that of the respective C groups. However, the repletion of glycogen in all of the E groups of plantaris was revealed higher tendency comparing to respective C groups. Mean repletion rates of glycogen in liver and muscles after glucose ingestion were highest during the first 60 minutes in all groups and the rates of E groups were 2-3 times than those of respective C groups. These results suggest that the glycogen supercompensation in the muscle be provided with decrement of glycogen concentration by exercise, increment of glucose uptake by muscuiar contraction itself and increased insuJin level, and the activation of glycogen synthetase by insulin.
Animals ; Athletes ; Eating* ; Glucose* ; Glycogen Synthase ; Glycogen* ; Humans ; Insulin ; Liver* ; Muscle Contraction ; Muscles ; Rats*

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
1,4-alpha-Glucan Branching Enzyme ; Child ; Glycogen ; Glycogen Storage Disease ; Glycogen Storage Disease Type IV ; Humans ; Infant ; Liver ; Liver Cirrhosis ; Liver Transplantation ; Living Donors ; Tissue Donors

Liver cell adenoma is uncommon and most often affects women of reproductive age; it is often associated with use of oral contraceptives. It is a very rare benign tumor of the liver in males and associated with use of anabolic steroids or glycogen storage disease type I. The surgical treatment remains controversial. We experienced 3 cases of male liver cell adenoma without use of anabolic steroids or glycogen storage disease. We performed right lobectomy of liver in 2 cases of mass on right lobe and performed mass enucleation with cholecystectomy in another case of mass on left medial segment.
Adenoma, Liver Cell* ; Cholecystectomy ; Contraceptives, Oral ; Female ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Humans ; Liver* ; Male* ; Steroids

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.
Animals ; Beak ; Biopsy ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease ; Glycosaminoglycans ; Hepatomegaly ; Humans ; Iduronate Sulfatase ; Infant ; Liver ; Liver Glycogen ; Lysosomal Storage Diseases ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Muscles ; Plasma ; Spine

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.
Adolescent ; Biopsy, Needle ; Exons ; Glucose-6-Phosphatase ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Hypercholesterolemia ; Hyperuricemia ; Hypoglycemia ; Liver ; Molecular Biology*

Glycogen storage disease(GSD) type lis due to defect of glycose-6-phosphatase at the membrane of the endoplasmic reticulum in liver. Clinical presentations of GSD 1 are massive hepatomegaly without splenomegaly, failure to thrive, bleeding tendency, hypoglycemia, fasting ketosis and hyperlipidemia. The appearance of patient is short and fat with particularly fat cheeks. Mental development is usually normal. It was diagnosed by liver biopsy and cofirmend as GSD type lby enzyme analysis. We have experienced a case of GSD type land reported with brief review of literatures
Biopsy ; Cheek ; Endoplasmic Reticulum ; Failure to Thrive ; Glycogen Storage Disease* ; Glycogen* ; Hemorrhage ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hypoglycemia ; Ketosis ; Liver ; Membranes ; Splenomegaly

Hepatic glycogenosis is an under-recognized cause of hepatomegaly and elevated serum aminotransferase levels in patients with type 1 diabetes; further, most cases of hepatic glycogenosis are reported to be associated with poor glycemic control. In this report, we describe the case of a 12-year-old girl with hepatic glycogenosis, who presented with elevated liver enzymes. She was diagnosed with type 1 diabetes at the age of 6 years, and her diabetes was very "brittle" with recurrent episodes of hypoglycemic attacks. Her recent hemoglobin A1C (HbA1c) level was 8.4%, and the average HbA1c level during the last 2 years was 8.7%. Her aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were persistently elevated during the last year, up to 700 and 258 U/L, respectively. Her growth rate and pubertal development were normal. Her serum was negative for hepatitis viral markers, and the plasma levels of ceruloplasmin and ferritin were also normal. Ultrasound examination revealed hepatomegaly with increased hepatic echogenicity. Liver biopsy demonstrated irregular glycogen deposition in hepatocytes. Recurrent hypoglycemia was resolved with continuous subcutaneous insulin infusion, and after 3 weeks, her AST and ALT levels decreased to 47 and 33 U/L, respectively. We conclude that hepatic glycogenosis should be suspected as a cause of abnormal liver function tests in patients with poorly controlled or brittle type 1 diabetes. After excluding other causes of hepatic dysfunction, a 1-month trial for achieving improved glycemic control, while avoiding hypoglycemia, is recommended before proceeding with invasive investigation of the patient.
Alanine Transaminase ; Aspartate Aminotransferases ; Biomarkers ; Biopsy ; Ceruloplasmin ; Child ; Diabetes Mellitus ; Ferritins ; Glycogen ; Glycogen Storage Disease ; Hemoglobins ; Hepatitis ; Hepatocytes ; Hepatomegaly ; Humans ; Hypoglycemia ; Insulin ; Liver ; Liver Diseases ; Liver Function Tests ; Liver Glycogen ; Plasma

Hepatomegaly and liver dysfunction might develop in patients with diabetes mellitus due to glycogen deposition or nonalcoholic steatohepatitis. We experienced a case of hepatic glycogenosis in a patient with type 1 diabetes mellitus who presented with recurrent hypoglycemia, suggesting impairment of glycogenolysis and gluconeogenesis. A 10-year-old girl with a 4-year history of type 1 diabetes mellitus was admitted because of recurrent hypoglycemia and abdominal pain in the right upper quadrant. She had Cushingoid features and hepatomegaly that extended 6 cm below the right costal margin. Laboratory data and radiologic examination revealed elevated liver enzyme levels due to fatty liver. Periodic acid-Schiff (PAS) staining revealed intense glycogen deposition in the cytoplasm of the hepatocytes and PAS reactivity was lost with diastase treatment. At 2 months after administration of glucagon injection and uncooked cornstarch between meals and at bedtime, the hypoglycemic episodes and liver dysfunction improved. It is important to distinguish hepatic glycogenosis from steatohepatitis, because it is possible to prevent excessive hepatic glycogen storage in hepatic glycogenosis cases by strictly controlling blood glucose level and by glucagon administration. To prevent severe hypoglycemic symptoms accompanied by hepatic glycogenosis, we suggest that uncooked cornstarch, which is effective in maintaining blood glucose level, can also be administered.
Abdominal Pain ; Amylases ; Blood Glucose ; Child ; Cytoplasm ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Fatty Liver ; Glucagon ; Gluconeogenesis ; Glycogen ; Glycogen Storage Disease ; Glycogenolysis ; Hepatocytes ; Hepatomegaly ; Humans ; Hypoglycemia ; Liver ; Liver Diseases ; Liver Glycogen ; Meals ; Starch