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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.
primary lactic acidosis, galactosemia, or a urea cycle disease 24 per 100,000 births [9] 1 in 4,200 [9] Lysosomal storage disease: 8 per 100,000 births [9] 1 in 12,500 [9] Peroxisomal disorder ~3 to 4 per 100,000 of births [9] ~1 in 30,000 [9] Respiratory chain-based mitochondrial disease ~3 per 100,000 births [9] 1 in 33,000 [9] Glycogen ...
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 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 ...
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 ]
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 .
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 ...
Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome , and two faulty copies of the gene—one from each parent—are required to be born with the disorder.
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