Disease

Glycogen Storage Disease Type 5

About the Disease
Glycogen Storage Disease V, also known as myophosphorylase deficiency, is related to metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration and myoglobinuria, recurrent. An important gene associated with Glycogen Storage Disease V is PYGM (Glycogen Phosphorylase, Muscle Associated), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Valproic acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include kidney, skeletal muscle and brain, and related phenotypes are highly elevated creatine kinase and glycogen accumulation in muscle fiber lysosomes

Common Targets
AMPD1 | HDAC1 | PPARD | PYGM | APEH

疾病靶点研报
Glycogen Storage Disease Type 5

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