Glycogen storage
Glycogen metabolism and glycogen storage disorders
... as glycogen primarily in the liver and skeletal muscle with a small amount stored in the ...Liver glycogen primarily maintains blood glucose levels, while skeletal muscle glycogen is utilized during ...
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Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects
... III glycogen storage disease, which have sufficient glycogen content to be analyzed by b-amylolysis, we demonstrated that the glucosyl units are first incorporated in the outer tiers, then ...
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A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony stimulating factor (G CSF): A case report
... Glycogen storage disease type Ib (GSD-Ib), one of over 12 inherited metabolic disorders of glycogen metabolism, is an autosomal recessive disease caused by mutations in the glucose-6-phosphate ...
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Original Article Exome sequencing identifies a novel mutation in the GAA gene in a patient with glycogen storage disease type II
... Glycogen storage disease (GSD) is character- ized by abnormal genetic glycogen metabolism in the muscles, liver, and brain and is divided into types 0 to ...[1]. Glycogen storage dis- ...
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Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b
... with glycogen storage disease (GSD) type 1b (1b), in contrast to patients with GSD type 1a (1a), are susceptible to recurrent bacterial infections suggesting an impairment in their immune ...
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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
... gen storage disease, manifested by car- diac hypertrophy and conduction sys- tem ...Excess glycogen storage and water in cardiomyocytes appear to account for increased cardiac mass in affected ...
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Hyperuricemia in glycogen storage disease type I Contributions by hypoglycemia and hyperglucagonemia to increased urate production
... Studies were performed to determine whether hypoglycemia or the glucagon response to hypoglycemia increases uric acid production in glycogen storage disease type I (glucose-6- phosphatase deficiency). Three ...
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Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII
... concentrations of serum uric acid (14.3 and 11.9 mg/dl, respectively), showed high basal concentrations of ammonia (118 and 79 mumol/liter, respectively; 23 +/- 4 mumol/liter in healthy controls) and of hypoxanthine ...
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Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen branching enzyme gene
... Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branch- ing enzyme (GBE) ...IV glycogen storage disease • mutation analysis ...
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Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
... Glycogen storage disease type 0 (GSD-0) is a rare form of fasting hypoglycemia presenting in infancy or early child- hood and accompanied by high blood ketones and low ala- nine and lactate ...The ...
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Identification of mutations in the gene for glucose 6 phosphatase, the enzyme deficient in glycogen storage disease type 1a
... Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose ...
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Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report
... with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young ...underlying glycogen storage ...of glycogen storage ...between glycogen ...
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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
... The molecular basis of GSD-III and the mechanisms deter- mining the tissue-specific expression of the GDE gene are largely unknown. It has not been understood how one gene, normally expressed in all tissues, can change ...
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Monitoring of the genetic health of cattle in theCzechRepublic
... Based on the results, the situation regarding the analysed recessive disorders of BLAD, DUMPS, bo- vine citrullinaemia and glycogen storage disease V, respectively, seems to be good. Nevertheless, the ...
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Loss of angiotensin converting enzyme related (ACER) peptidase disrupts behavioural and metabolic responses to diet in Drosophila melanogaster
... sleep, glycogen storage and survival in males were not due to differences in the quantity of each diet ...less glycogen than controls and showed no difference in mass, lipid and DILP5 levels on these ...
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First Case of Liver Glycogen Documented in the Pediatric Ward of the University Hospital of Treichville (Cote D’Ivoire)
... The clinical manifestations of type III glycogen storage disease are highly va- riable from one person to another. The liver damage is always detected at some time in childhood or may be caused by another ...
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Aberrant activation of AMP activated protein kinase remodels metabolic network in favor of cardiac glycogen storage
... to glycogen synthesis (Figure ...increased glycogen synthesis occurs in the heart when enhanced oxi- dation of nonglucose substrate is associated with sustained glucose uptake rate under certain ...
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Prolyl hydroxylase 2 inactivation enhances glycogen storage and promotes excessive neutrophilic responses
... utilize glycogen for survival responses, we first questioned whether they express glycogen synthase, the key enzyme required for glycogen synthe- ...
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Creatine ingestion augments dietary carbohydrate mediated muscle glycogen supercomposition during the initial 24 hrs of recovery following prolonged exhaustive exercise in humans
... exercise glycogen storage that accompanied Cr ingestion ...muscle glycogen storage occurred almost exclusively within the first 24 h of treatment and, therefore, preceded the first ...
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ATP Depletion, a Possible Role in the Pathogenesis of Hyperuricemia in Glycogen Storage Disease Type I
... Glucagon infusion in seven patients with GSD-I caused a decrease in hepatic ATP from 2.25 ± 0.09 to 0.73 ± 0.06 µmol/g liver (P <0.01), within 5 min, persisting in one patient to 20 min (1.3 µmol/g). Three patients ...
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