Glycogen Storage Disease (GSD): Symptoms, Treatment & Types
2023年6月26日 · What is glycogen storage disease? Glycogen storage diseases (GSDs) are a group of rare conditions in which your body can’t use or store glycogen properly. They’re types of inherited (passed from parent to child) metabolic disorders.
Glycogen Storage Disease - StatPearls - NCBI Bookshelf
2023年5月29日 · 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.
Glycogen Storage Disease - Johns Hopkins Medicine
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.
Glycogen storage disease - Wikipedia
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 (GSD) - Children's Hospital of Philadelphia
Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of the body, depending on the specific type.
Glycogen storage disease type I - MedlinePlus
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Explore symptoms, inheritance, genetics of this condition.
Glycogen Storage Disease - Boston Children's Hospital
Glycogen storage disease type III (GSD III), also known as Cori disease or Forbes disease, causes glycogen to build up in the liver and muscles. Symptoms typically appear within the first year of life. Children with this type of GSD may have …
Glycogen Storage Disease: Types, Symptoms, and Treatments
2023年4月12日 · Glycogen storage disease (GSD) refers to a group of rare inherited disorders that affects how the body metabolizes glycogen, the stored form of glucose. The signs of GSD vary based on the type but may include slow growth, liver dysfunction, and hypoglycemia.
Glycogen storage diseases - Nature Reviews Disease Primers
2023年9月7日 · 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 disorder due to hepatic glycogen synthase …
Glycogen storage disease due to hepatic glycogen synthase deficiency (GSD type 0a), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose). Unlike other types of GSD, liver GSD type 0a does not involve excessive or abnormal glycogen storage, and ...
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