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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 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 caused by genetic defects in the gene that codes for liver glycogen synthetase (GYS2), which is located on chromosome band 12p12.2. [ citation needed ] Glycogen synthetase catalyzes the rate-limiting reaction for glycogen synthesis in the liver by transferring glucose units from uridine 5'-diphosphate (UDP ...
When both parents are unaffected genetic carriers, then their children may develop APBD, may be unaffected carriers, or may be healthy children without the mutation.. APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more loss-of-function mutations in the gene GBE1 which encodes for glycogen branching enzyme, also called 1,4 ...
The scope of GSD VI now also includes glycogen storage disease type VIII, [2] IX [2] (caused by phosphorylase b kinase deficiency) and X [2] (deficiency protein kinase A). The incidence of GSD VI is approximately 1 case per 65,000–85,000 births, [2] representing approximately 30% all cases of glycogen storage disease.
Glycogen storage disease type IX can be inherited via: [2] [4] X-linked recessive inheritance due to mutations at either PHKA1 or the PHKA2 (most common [ 5 ] ) gene Autosomal recessive could be the inheritance pattern for an affected individual when the genes PHKB or PHKG2 have a mutation .
Examples include glycogen storage diseases, disorders of fatty acid metabolism, and disorders of gluconeogenesis, among several others. [2] [4] Less common genetic causes, such as Russell-Silver syndrome, have also been described. [5] A non-exhaustive list of causes of pathologic ketotic hypoglycemia is listed below: [2] Growth hormone deficiency