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This mutation interrupts a site of RNA splicing. The gene encodes a protein—acid alpha-glucosidase (EC 3.2.1.20)—which is a lysosomal hydrolase. The protein is an enzyme that normally degrades the alpha -1,4 and alpha -1,6 linkages in glycogen, maltose and isomaltose and is required for the degradation of 1–3% of cellular glycogen.
A glycogen storage disease(GSD, also glycogenosisand dextrinosis) is a metabolic disordercaused by a deficiency of an enzymeor transport proteinaffecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in musclesand/or livercells. [1] GSD has two classes of cause: genetic and environmental.
Glycogen (black granules) in spermatozoa of a flatworm; transmission electron microscopy, scale: 0.3 μm. Glycogen is a multibranched polysaccharide of glucose that serves as a form of energy storage in animals, [2] fungi, and bacteria. [3] It is the main storage form of glucose in the human body.
Refeeding syndrome (RFS) is a metabolic disturbance which occurs as a result of reinstitution of nutrition in people who are starved, severely malnourished, or metabolically stressed because of severe illness. When too much food or liquid nutrition supplement is eaten during the initial four to seven days following a malnutrition event, the ...
Why do women lose more weight on Ozempic? It’s hard to say. “The mechanisms underlying this discrepancy are unknown,” Gasoyan says. However, Ali says that hormones may play a role ...
Glycogenesis. Glycogenesis is the process of glycogen synthesis, 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. [1]
Vitamin B 6 is a water-soluble vitamin, one of the B vitamins. The vitamin actually comprises a group of six chemically related compounds, i.e., vitamers, that all contain a pyridine ring as their core. These are pyridoxine, pyridoxal, pyridoxamine, and their respective phosphorylated derivatives pyridoxine 5'-phosphate, pyridoxal 5'-phosphate ...
Ketotic hypoglycemia. Ketotic hypoglycemia refers to any circumstance in which low blood glucose is accompanied by ketosis, the presence of ketone bodies (such as beta-hydroxybutyrate) in the blood or urine. This state can be either physiologic or pathologic; physiologic ketotic hypoglycemia is a common cause of hypoglycemia in children, often ...