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A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, [1] [2] who first described it in 1949.. It is associated with GLUT2, [3] [4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood.
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.
Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. [4] Andersen's disease affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. [ 5 ] The disease was described and studied first by Dorothy Hansine Andersen .
Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems.
The highest incidence of glycogen storage disease type III is in the Faroe Islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect. [ 6 ] There seem to be two mutations in exon 3 (c.17_18delAG) being one of them, which are linked to the subtype IIIb.
Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome , and two faulty copies of the gene—one from each parent—are required to be born with the disorder.
Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. [1]
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