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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.
Danon disease (GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency) Symptoms of both GSD types IIa and IIb are very similar due to a defect in lysosomes. However, in type IIb, some show abnormal glycogen accumulation, but not all. Classic infantile form (Pompe disease): Cardiomyopathy and muscular hypotonia.
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3] [4] Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type ...
Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. [4] Andersen's disease affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. [5] The disease was described and studied first by Dorothy Hansine Andersen. [6] [7]
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy , skeletal muscle weakness, and intellectual disability. [ 2 ]
Glycogen storage disease type III; Other names: Cori Disease, Debrancher Deficiency, Forbes Disease [1] Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. Specialty: Endocrinology Symptoms: Hypotonia [2] Causes: AGL gene mutation [3] Diagnostic method: Biopsy, Elevated ...
The scope of GSD VI now also includes glycogen storage disease type VIII, [2] IX [2] (caused by phosphorylase b kinase deficiency) and X [2] (deficiency protein kinase A). The incidence of GSD VI is approximately 1 case per 65,000–85,000 births, [2] representing approximately 30% all cases of glycogen storage disease.