Clinical resource with information about Glycogen storage disease type X and its clinical features, PGAM2, available genetic tests from US and labs around the world and links to practice …

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 …

2025年1月21日 · Most GSDs show an autosomal recessive inheritance, but a few, like GSD type IX, show an X-linked inheritance. Common presenting symptoms include growth retardation …

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, …

2009年7月27日 · A number sign (#) is used with this entry because glycogen storage disease X (GSD10) is caused by homozygous or compound heterozygous mutation in the PGAM2 gene , …

Glycogen storage disease, types I to X: criteria for morphologic diagnosis. McAdams AJ, Hug G, Bove KEHum Pathol 1974 Jul;5 (4):463-87. doi: 10.1016/s0046-8177 (74)80024-9. PMID: …

Glycogen storage disease due to phosphoglycerate mutase deficiency (also known as GSD type X) is characterized by exercise intolerance leading to rhabdomyolysis which manifests through …

Glycogen storage disease X is a rare metabolic disorder characterized by susceptibility to rhabdomyolysis, exercise-induced muscle pain, cramping, and myoglobinuria. It is caused by …

Glycogen Storage Disease Type X is a very rare inherited condition. Less than 50 cases have been reported worldwide so far. What are the signs and symptoms? Signs and symptoms of …

Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle …