Synonyms Hepatic glycogen synthase deficiency; Glycogen storage disease type 0; GSD0 Definition and Characteristics Autosomal recessive deficiency of hepatic glycogen synthase. Inability to store hepatic glycogen results in postprandial hyperglycemia, hyperlactatemia, and hyperlipidemia alternating with fasting ...
Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia...
2.6.1. Muscle glycogen synthase deficiency (muscle GSD 0) Loss of function mutations in the GYS1 gene has been described in two families and cause inherited deficiency of the muscle isoenzyme of glycogen synthase, leading to glycogen depletion in skeletal muscle and the heart resulting in myopathy...
Although less common than some of the other GSDs, enough cases of glycogen synthase deficiency have been reported to describe the phenotype.265,266 Glycogen synthase activity is markedly reduced in liver but normal in muscle. Infants and children with GSD 0 may have symptoms of fasting-induced ...
I. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol. Genet. Metab. 87, 284–288 (2006). Article CAS PubMed Google Scholar Chevion, S. et al. Plasma antioxidant status and cell injury after severe physical exercise. Proc. Natl Acad. Sci. ...
Long-termfollow-up ofa new case of liver glycogen synthase deficiency. Laberge AM,Mitchell GA,van de Werve G,et al. Am J MedGenet A . 2003Laberge AM, Mitchell GA, van der Werve G, Lambert M. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am. J. Med. ...
et al. A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy. Neuromuscul. Disord. 32, 582–589 (2022). Article PubMed Google Scholar Visser, G. et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease ...
Type 0 (Lewis’ disease): Caused by glycogen synthase deficiency and affects the liver. Type I (von Gierke’s disease): Caused by a defect in glucose-6-phosphatase. Type IA: Affects the liver, kidneys, and intestines Type IB: Affects the liver, kidneys, intestines, and blood cells. ...
Glycogen synthase kinase 3β inhibition synergizes with PARP inhibitors through the induction of homologous recombination deficiency in colorectal cancer Abstract Monotherapy with poly ADP-ribose polymerase (PARP) inhibitors results in a limited objective response rate (≤60% in most cases) in patients ...
摘要: ASYMPTOMATIC HEPATIC GLYCOGEN-SYNTHETASE DEFICIENCY. By - A. Aynsley Green, D.H. Williamson, R. Gitzelman关键词:Blood Cells Erythrocytes Leukocytes Humans Liver Diseases Glycogen Synthase Female Male DOI: 10.1016/S0140-6736(78)90442-7 ...