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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.
26 cze 2023 · GSD is a group of rare inherited conditions that affect how your body uses or stores glycogen, a form of glucose. Learn about the causes, symptoms, diagnosis and treatment of different types of GSD and how to manage them.
GSD is a rare genetic disorder that affects how the body uses and stores glycogen, a form of sugar. It can cause problems in the liver, muscles, and other organs. Learn about the types, symptoms, diagnosis, and treatment of GSD.
29 maj 2023 · Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. Clinical onset can range from neonatal life to adulthood. In general, they occur due to a lack of specific enzymes involved in the breakdown of glycogen and result in an abnormal buildup of glycogen in the liver or skeletal muscles.
8 sie 2023 · Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It was first described by Von Gierke in 1929 who reported excessive hepatic and renal glycogen in the autopsy reports of 2 children.
7 wrz 2023 · Glycogen storage diseases (GSDs) are a group of disorders characterized by a biochemical deficit in glycogenesis (glycogen synthesis), glycogenolysis (breakdown of glycogen to...
In humans, glycogen is the main storage form of glucose and the primary means of non-oxidative glucose disposal into muscle and liver tissues (Shulman and Rothman 2001), although significant amounts are also found elsewhere, such as the brain and kidney (Adeva-Andany et al. 2016).
