Glycogen Branching Enzyme Deficiency The glycogen branching enzyme (GBE) catalyzes the last step in glycogen biosynthesis by attaching a short glucosyl chain (about 7 glucosyl units) in an α-1,6-glucosidic link to a naked peripheral chain of nascent glycogen. The newly added twigs are then...
Bruno C, Servidei S, Shanske S,et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 1993;33:88-93.Bruno C, Servidei S, Shanske S, et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 1993;33(1):88- 93....
The human gene that encodes the glycogen branching enzyme (GBE1) has been mapped to chromosome 3p14 [44]. 2.7.1. Glycogen branching enzyme deficiency or Andersen disease (GSD IV) Mutations in the gene that encodes the glycogen branching enzyme cause amylopectinosis, Andersen disease or GSD ...
Iron Regulatory Protein 1 (IRP1) is a bifunctional cytosolic iron sensor. When iron levels are normal, IRP1 harbours an iron-sulphur cluster (holo-IRP1), an enzyme with aconitase activity. When iron levels fall, IRP1 loses the cluster (apo-IRP1) and bind
4.) Branching of glycogen chains Branching enzyme: an enzyme with glucosyltransferase activity that introduces branches to the glycogen chain to allow for further chain elongation at multiple sites within the glycogen complex Catalyzes the formation of α-1,6-glycosidic bonds: hydrolyzes a chain of...
& Chen, Y. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Investig. 97, 941–948 (1996). Article CAS PubMed PubMed Central Google Scholar SHELLEY, H. J. Glycogen rfserves and their changes at...
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease affecting glyc... JJ Shen,YT Chen - 《Current Molecular Medicine》 被引量: 138发表: 2002年 Molecular characterization of hepatocellular adenomas developed in...
GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. In 1956, Andersen reported the first patient with progressive hepatosplenomegaly and accumulation of abnormal polysaccharides. The main clinical fea...
GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. In 1956, Andersen reported the first patient with progressive hepatosplenomegaly and accumulation of abnormal polysaccharides. The main clinical fea...
(branching enzyme deficiency) Hepatomegaly, ↑ AST and ALT,a prolonged PT and low albumin in advanced stage of disease Lack of hypoglycemia until end-stage liver disease; PT commonly prolonged in GSD IV; increased GGT GSD VI (hepatic phosphorylase deficiency) Hepatomegaly, fasting hypoglycemia, ...