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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.
Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. GSD type II (Pompe disease) GSD type V (McArdle disease) GSD type VII (Tarui disease) GSD type XI (Lactate dehydrogenase deficiency) GSD type X (Phosphoglycerate mutase deficiency) Phosphoglycerate kinase deficiency
Toggle the table of contents. Glycogen storage disease type IV. 12 languages. ... Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. [4]
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]
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.
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; Glycogen storage disease type 1B; Glycogen storage disease type 1C; Glycogen storage disease type 1D; Glycogen storage disease type 6, due to phosphorylation; Glycogen storage disease type 7; Glycogen storage disease type 9; Glycogen storage disease type II; Glycogen storage disease type V; Glycogen storage disease type VI
Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system. [2] It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959. [3]
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