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Learn about the causes, types, symptoms and treatments of glycogen storage disease, a group of metabolic disorders affecting glycogen synthesis, breakdown or glucose breakdown. Find out the incidence, genetic defects, and prognosis of each type 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.
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 glucose, via...
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.
26 sie 2016 · Glycogen storage disease type III (Cori disease or Forbes disease) (OMIM 232400) was initially discovered in 1952 when a patient being followed by Dr. Gilbert Forbes was found to have excessive amounts of abnormally structured glycogen in liver and muscle tissue [67, 68].
This article provides a comprehensive review of the rare, monogenic disorders that affect glycogen metabolism in various organs. It covers epidemiology, biochemistry, diagnosis, management, quality of life and future research directions for hepatic and muscle GSDs.
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).
