Phosphorylase Deficiency

Phosphorylase Deficiency, also known as Myophosphorylase Deficiency and McArdle’s Disease, is a metabolic disease of the muscles which can strike in childhood or the teen years, usually before age 15. This disease is usually not progressive, but it is characterized by muscle cramps, weakness, and pain shortly after beginning exercise, and heavy exercise can do permanent damage to muscle and kidneys. This disease is autosomal recessive, meaning caused by the contribution of a defective gene from each parent.

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