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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.
Clinical manifestations of glycogen storage disease type III are divided into four classes: [3] GSD IIIa, is the most common, (along with GSD IIIb) and which clinically includes muscle and liver involvement; GSD IIIb, which clinically has liver involvement but no muscle involvement; GSD IIIc which clinically affects liver and muscle.
This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have low solubility, leading to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to break down glycogen in muscle cells causes muscle weakness.
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.
The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. [1] Glucose-6-phosphate isomerase deficiency affects step 2 of glycolysis.
Glycogen storage disease type I has an autosomal recessive pattern of inheritance. GSD I is inherited in an autosomal recessive manner. People with one copy of the faulty gene are carriers of the disease and have no symptoms. As with other autosomal recessive diseases, each child born to two carriers of the disease has a 25% chance of ...
Hepatalin is a hormone produced by the liver after feeding and plays a central role in the partitioning of the storage of nutrient energy by its action on glucose uptake and formation of glycogen in muscle. Hepatalin accounts for the majority of postprandial glucose uptake.
Glycogenesis is the process of glycogen synthesis or the process of converting glucose into glycogen in which glucose molecules are added to chains of glycogen for storage. This process is activated during rest periods following the Cori cycle , in the liver , and also activated by insulin in response to high glucose levels .