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9 mar 2010 · Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement.
Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes. [3]
Glycogen storage disease type III (also known as GSDIII or Cori 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.
22 kwi 2016 · Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only liver symptoms and signs.
26 cze 2023 · 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 type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Glycogen storage disease type III manifests a wide clinical spectrum.
29 maj 2023 · Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. Disorders of carbohydrate metabolism that result in abnormal storage of glycogen are classified as GSDs. They are classified numerically in the order of recognition and identification of the enzyme defect causing the disorder.
