Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.
Adult* ; Glycogen Storage Disease ; Glycogen* ; Glycogenolysis ; Glycolysis ; Humans ; Muscular Diseases*

Endurance exercise training such as marathon can increase the ability of exercise performance. Muscle glycogen is associated with an exercise performance, because glycogen depletion is primary causes of muscle fatigue. This review summarizes the glycogen saving effect according to duration of endurance exercise training. Long-term endurance exercise-induced mitochondrial biogenesis contributes to glycogen saving effect that is reduced glycogen breakdown and lactate accumulation. Glycogen sparing is due to a smaller decrease in adenosine triphosphate and phosphocreatine and a smaller increase in inorganic phosphate in the working muscles. It takes required endurance exercise training for about 4 weeks or more. Single bout or short-term endurance exercise is not sufficient to bring an increase in functional mitochondria. But peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α) increases rapidly after single bout of endurance exercise. PGC-1α downregulates glycogenolytic and glycolytic enzymes to reduce muscle glycogen breakdown and lactic acid accumulation after short-term endurance exercise.
Adenosine Triphosphate ; Glycogen* ; Glycogenolysis ; Lactic Acid ; Mitochondria ; Muscle Fatigue ; Muscle, Skeletal* ; Muscles ; Organelle Biogenesis ; Peroxisomes ; Phosphocreatine

Glucose homeostasis is tightly regulated to meet the energy requirements of the vital organs and maintain an individual's health. The liver has a major role in the control of glucose homeostasis by controlling various pathways of glucose metabolism, including glycogenesis, glycogenolysis, glycolysis and gluconeogenesis. Both the acute and chronic regulation of the enzymes involved in the pathways are required for the proper functioning of these complex interwoven systems. Allosteric control by various metabolic intermediates, as well as post-translational modifications of these metabolic enzymes constitute the acute control of these pathways, and the controlled expression of the genes encoding these enzymes is critical in mediating the longer-term regulation of these metabolic pathways. Notably, several key transcription factors are shown to be involved in the control of glucose metabolism including glycolysis and gluconeogenesis in the liver. In this review, we would like to illustrate the current understanding of glucose metabolism, with an emphasis on the transcription factors and their regulators that are involved in the chronic control of glucose homeostasis.
Gluconeogenesis ; Glucose* ; Glycogenolysis ; Glycolysis ; Homeostasis ; Liver ; Metabolic Networks and Pathways ; Metabolism* ; Negotiating ; Protein Processing, Post-Translational ; Transcription Factors

Hepatocellular carcinomas (HCCs) in patients with Crohn's disease (CD) without underlying chronic hepatitis or liver cirrhosis are extremely rare. Previously reported cases occurred in patients who had developed CD at a young age and had been treated with immunosuppressive agents long-term. We herein report the first case of HCC in a 34-year-old patient with CD in Korea. The patient was treated with azathioprine for 14 years and had undergone repeated surgeries for CD. During the follow-up period, the patient was hospitalized for colon perforation and pericolic abscess formation. Computed tomography showed a liver mass, and HCC was diagnosed based on liver biopsy. The patient underwent right hemicolectomy for colon perforation and transcatheter arterial chemoembolization followed by radiofrequency ablation for the HCC. The present case is similar to previously reported cases with the exception of the liver pathology findings, which exhibited neither primary sclerosing cholangitis nor focal hepatic glycogenolysis.
Abscess ; Adult ; Azathioprine ; Biopsy ; Carcinoma, Hepatocellular* ; Catheter Ablation ; Cholangitis, Sclerosing ; Colon ; Crohn Disease* ; Follow-Up Studies ; Glycogenolysis ; Hepatitis, Chronic ; Humans ; Immunosuppressive Agents ; Korea ; Liver ; Liver Cirrhosis ; Pathology ; Infliximab

Glucose is essential for energy metabolism in human, especially in brain, and is a source of energy storage in the form of glycogen, fat and protein. During fetal life, the predominant source of energy is also glucose, which crosses the placenta by facilitated diffusion. There is very little endogenous glucose production under normal circumstances during fetal life. During labor, the fetus is exposed to physiological challenges that require metabolic adaptation. A healthy infant successfully manages the postnatal transition by mobilizing and using alternative. After birth, there is a rapid surge in catecholamine and glucagon levels, and a steady decrease in insulin, as blood glucose levels decline. These hormonal changes induce enzyme activities that lead to glycogenolysis and gluconeogenesis. During the first 24-48 hours of life, plasma glucose concentrations of neonates are typically lower than later in life. Distinguishing between transitional neonatal glucose regulation in normal neonates and hypoglycemia that persists or occurs for the first time beyond the first 72 hours of life is important for prompt diagnosis and treatment to avoid serious consequences.
Blood Glucose ; Brain ; Diagnosis ; Energy Metabolism ; Facilitated Diffusion ; Fetus ; Glucagon ; Gluconeogenesis ; Glucose* ; Glycogen ; Glycogenolysis ; Homeostasis* ; Humans ; Hypoglycemia ; Infant ; Infant, Newborn ; Insulin ; Parturition ; Placenta

Sleep-disordered breathing (SDB) is associated with increased cardiovascular and cerebrovascular morbidity. Epidemiological and clinic-based studies have shown that SDB is related to impaired glucose tolerance and increased insulin resistance, independent of obesity. Despite of a consistent association between SDB and impaired glucose-insulin metabolism, the mechanism underlying this relationship has not been fully elucidated. It is recognized that hypoxemia and hypercapnia that occur in SDB provoke sympathetic nervous activity and catecholamine, epinephrine and norepinephrine, and cortisol are released. Sympathetic hyperactivity and increased catecholamines can impair glucose homeostasis by increasing glycogenolysis and gluconeogenesis, which can result in increased circulating insulin levels and increased risk of insulin resistance. A prospective study is needed to investigate the causal relationship between SDB and impaired glucose-insulin metabolism in a healthy population without diabetes, hypertension and obesity as etiologic risk factors.
Anoxia ; Catecholamines ; Epinephrine ; Gluconeogenesis ; Glucose ; Glycogenolysis ; Homeostasis ; Hydrocortisone ; Hypercapnia ; Hypertension ; Insulin ; Insulin Resistance ; Metabolism ; Norepinephrine ; Obesity ; Risk Factors ; Sleep Apnea Syndromes* ; Sleep Wake Disorders

Secondary diabetes mellitus caused by increased growth hormone secretion (GH) has well been known. There is a close association between glucose intolerance and GH secretion, and increased GH level itself probably worsens the blood glucose control and lipid profile by increasing glycogenolysis and / or gluconeogenesis and by suppressing lipase activity. We report a case of acromegaly with diabetic ketoacidosis as and hypertriglyceridemia-induced acute pancreatitis. A 38 year old male, previously diagnosed to have acromegaly and diabetes, presented with nausea, vomiting, diffuse abdominal pain and altered mentality. There was no history of drug or alcohol consumption, blood gas analysis showed severe acidosis and urinanalysis for ketone was positive. His serum blood glucose, amylase and lipase levels were 494 mg/dL, 331 U/L, and 1288 U/L, respectively (reference values: 70~110 mg/dL, 13~100 U/L and 13~190 U/L, respectively). The patient was diagnosed as having diabetic ketoacidosis and acute pancreatitis. With the serum concentration of triglyceride being 1488 mg/dL and the absence of any obvious precipitating factors, we considered hypertriglyceridemia to be the cause of acute pancreatitis. He was treated with continuous intravenous insulin infusion, lipid lowering agent, and fluid replacement. After conservative management, general condition gradually improved and his serum amylase, lipase and triglyceride levels were all normalized. GH level was not suppressed under 2 ng/mL during oral glucose loading test, and basal GH and IGF levels were 231 ng/mL and 29.5 ng/mL, respectively. Sella MRI showed a 3.7 cm sized pituitary mass. On the 55th day of admission, transsphenoidal surgery was performed. In immunohistochemical staining, the pathologic tumor specimen was proved to be GH positive pituitary adenoma. This is the first case reported in the English literature of an acromegaly presenting with diabetic ketoacidosis and acute pancreatitis
Abdominal Pain ; Acidosis ; Acromegaly* ; Adult ; Alcohol Drinking ; Amylases ; Blood Gas Analysis ; Blood Glucose ; Diabetes Mellitus ; Diabetic Ketoacidosis* ; Gluconeogenesis ; Glucose ; Glucose Intolerance ; Glycogenolysis ; Growth Hormone ; Humans ; Hypertriglyceridemia ; Insulin ; Lipase ; Magnetic Resonance Imaging ; Male ; Nausea ; Pancreatitis* ; Pituitary Neoplasms ; Precipitating Factors ; Triglycerides ; Vomiting

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

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

Arginine vasopressin (AVP) is a neuropeptide with vasoconstrictive, antidiuretic, cardiovascular regulative and hepatic glycogenolysis effects, that also affects other behaviors including modulating learning. A number of studies on AVP regulation have been conducted in various metabolic diseases (disorders). In this study, the immunoreactivities of AVP in the paraventricular nucleus (PVN) and supraoptic nucleus (SON) and mRNA expressions in the hypothalamus were investigated by immunohistochemistry and quantitative real-time PCR (RT-qPCR) in stroke-prone spontaneously hypertensive rats at different ages (i.e., at postnatal months [PM] 1, 8, and 12). Blood glucose levels in the PM 8 group were higher than in the other groups. However, cresyl violet positive neurons were detected in the PVN and SON of all animals, and numbers of cresyl violet positive neurons were similar in all aged groups. In addition, AVP immunoreactivity was detected in the PVN and SON of all age groups, and AVP immunoreactivity and mRNA expression levels were found to be increased in proportion to age by immunohistochemistry and RT-qPCR. These results suggest that the diabetic condition is temporally generated after hypertension has developed. Furthermore, our findings suggest that increased AVP expressions in the hypothalamic PVN and SON are associated with hypertension by age.
Aged ; Animals ; Arginine ; Arginine Vasopressin ; Benzoxazines ; Blood Glucose ; Glycogenolysis ; Humans ; Hypertension ; Hypothalamus ; Immunohistochemistry ; Learning ; Metabolic Diseases ; Molybdenum ; Neurons ; Neuropeptides ; Oxides ; Paraventricular Hypothalamic Nucleus ; Rats, Inbred SHR ; Real-Time Polymerase Chain Reaction ; RNA, Messenger ; Supraoptic Nucleus ; Viola