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15 maj 2021 · Adult Polyglucosan Body Disease (APBD) is a neuromuscular, adult-onset form of glycogen storage disease type IV (GSD IV). The Symptoms of APBD.
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.
26 cze 2023 · Glycogen storage diseases are a group of rare inherited conditions that can cause frequent low blood sugar, muscle weakness and liver damage. There are several different types based on which enzyme is missing, and each one affects you differently. Most types are manageable with treatment.
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).
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...
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children (inherited). For most GSDs, each parent must pass on one abnormal copy of the same gene.
1 dzień temu · Pompe disease, or glycogen storage disease type II, is a lysosomal storage disorder and a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase (GAA, also referred to as acid maltase). ... Center of Excellence for Rare Metabolic Diseases in Adults, Charite-Universitätsmedizin Berlin, Berlin, Germany.
