A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic … A number sign (#) is used with this entry because of evidence that liver glycogen storage disease-0 (GSD0A) is caused by homozygous or compound heterozygous mutation in the GYS2 gene (), which encodes glycogen synthase-2, on chromosome 12p12.See 611556 for a description of muscle glycogen storage disease caused by mutation in the GYS1 gene (). in 1963 [9]. The human GBE1 gene is located on chromosome 3p12.3, and has a coding sequence of 2.106 bp with 16 exons encoding a 702–amino acid GBE protein, which is ubiquitously expressed. Synonyms: Liver GSD 0, Liver glycogen storage disease 0, Hepatic glycogen synthase deficiency, Liver glycogen synthase deficiency Glycogen storage disease type 12. Glycogen is the stored form of glucose and serves as a buffer for glucose needs. Kasapkara ÇS, Aycan Z, Açoğlu E, et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Although feeding relieves symptoms, it results in postprandial hyperglycemia and hyperlacticacidemia. Although GSD0 has been classified as a glycogen storage disease (GSD), this is a misnomer. Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body.
In contrast to all other types of glycogenoses, which are characterized by increased glycogen storage, deficiency of glycogen synthase causes a marked decrease in liver glycogen content. Glycogen storage disease type 0 (GSD 0, MIM 240600), also known as aglycogenosis, is an autosomal recessive disease caused by genetic defects in glycogen synthase. Glycogen storage disease (GSD) type 0, also known as hepatic glycogen synthase deficiency, is characterized by reduced capacity of the liver to store glycogen due to the absence of an enzyme responsible for the conversion of glucose to glycogen in the liver. Case Report The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. Glycogen Synthase Deficiency. Three children from two German families are described and the observations compared with the previously published three families comprising eight patients. Clinical Features Treatment involves a specific diet that includes frequent meals with high protein intake … Glycogen Storage Diseases Handbook. Glycogen synthase in … It is caused by a deficiency of the enzyme glycogen synthetase in the liver, due to mutations in the GYS2 gene.
Infantile hypoglycemia due to the deficiency of liver glycogen synthase was demonstrated for the 1st time in a well-studied family by Lewis et al. Different subtypes with … Orho M, Bosshard NU, Buist NR, et al. J Clin Invest 1998;102:507-15. Although hypoglycemia during fasting can continue to be a problem, the long-term prognosis is relatively good. Glycogenin acts as the primer, to which further glucose monomers may be added. GBE participates with glycogen synthase in the synthesis of glycogen by transferring a minimum of six α-1,4-linked glycosyl units into an α-1,6 position. The overall frequency of GSDs is approximately 1/25000‐1/20000 newborns. This enzyme is needed for the body to make glycogen. The overall frequency of GSDs is approximately 1/25000‐1/20000 newborns. Both hypoglycemia and hyperglycemia can induce symptoms and the diagnosis is made by a thorough laboratory workup, genetic studies, …
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