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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.
Other congenital metabolic diseases; some of the common include Maple syrup urine disease and other organic acidurias; Type 1 glycogen storage disease; Type III glycogen storage disease. Can cause less severe hypoglycemia than type I; Phosphoenolpyruvate carboxykinase deficiency, causes metabolic acidosis and severe hypoglycemia.
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 ...
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 ...
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
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]
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 .