McArdle Syndrome (Glycogen Storage Disease Type V)
Alternate Names : Glycogen Storage Disease Type V, Muscle Phosphorylase Deficiency
Definition
McArdle syndrome is a metabolic disease characterized by an inability to break down glycogen, an important source of energy that is stored in muscle tissue. Without glycogen, muscle strength and effectiveness are diminished.
Overview, Causes, & Risk Factors
McArdle syndrome is a genetic disorder which results from deficiency in muscle of a specific enzyme called muscle phosphorylase. The disease is recessive, which means that a person must inherit the defective gene from both parents in order to be affected. A parent who carries only one copy of the gene will not be affected.
Without muscle phosphorylase, glycogen cannot be broken down. Weakness, cramps and pain can result.
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