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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 V (GSD5, GSD-V), [ 1 ] also known as McArdle's disease, [ 2 ] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [ 3 ][ 4 ] Its incidence is reported as one in 100,000, roughly the same as glycogen storage ...
Liver glycogen stores serve as a store of glucose for use throughout the body, particularly the central nervous system. [4] The human brain consumes approximately 60% of blood glucose in fasted, sedentary individuals. [4] Glycogen is an analogue of starch, a glucose polymer that functions as energy storage in plants.
Complications of diabetes are secondary diseases that are a result of elevated blood glucose levels that occur in diabetic patients. These complications can be divided into two types: acute and chronic. Acute complications are complications that develop rapidly and can be exemplified as diabetic ketoacidosis (DKA), hyperglycemic hyperosmolar ...
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. There are also possibly rarer subtypes, the ...
In glycogen storage diseases, however, glycogen cannot be properly broken down, leading to inappropriately decreased glucose levels in a fasting state, and thus hypoglycemia. [3] The glycogen storage diseases associated with hypoglycemia include type 0 , type I , type III , and type IV , as well as Fanconi syndrome .
If the blood glucose level falls to dangerously low levels (as during very heavy exercise or lack of food for extended periods), the alpha cells of the pancreas release glucagon, a peptide hormone which travels through the blood to the liver, where it binds to glucagon receptors on the surface of liver cells and stimulates them to break down glycogen stored inside the cells into glucose (this ...
In a healthy adult male of 75 kg (165 lb) with a blood volume of 5 L, a blood glucose level of 5.5 mmol/L (100 mg/dL) amounts to 5 g, equivalent to about a teaspoonful of sugar. [13] Part of the reason why this amount is so small is that, to maintain an influx of glucose into cells, enzymes modify glucose by adding phosphate or other groups to it.