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mcardle syndrome…

 

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glycogen storage disease type v, myophosphorylase deficiency, muscle glycogen phosphorylase deficiency, pgym deficiency, mcardle syndrome, disease characterized, inability to break down glycogen, glycogen an important source of energy that is stored in muscle tissue, mcardle syndrome results, a mutation, gene, gene makes an enzyme, glycogen phosphorylase, a result of this mutation, glycogen cannot be broken, in the muscles, lead to weakness, cramps, muscle pain, disease is inherited, an autosomal recessive genetic disorder, that an affected person inherits a copy, the defective gene from both parents, a person who inherits a defective gene from only one parent, not affected, a family history of mcardle syndrome increases the risk, begin, a young adult, muscle pain, muscle cramps, muscle stiffness, muscle weakness, intolerance, exercise, exercise, produce a burgundy-colored urine, myoglobinuria, reduced by avoiding strenuous exercise, following tests perfomed, lactic acid in blood, myoglobin in urine, serum creatine kinase, muscle biopsy, electromyography, emg, mri, genetic testing, enzyme, dna, no specific treatment, managed by controlling exercise, physical activity, excessive, intense exercise, visit the association, glycogen storage disease at, agsdus, mcardle syndrome, live a normal lifespan by managing physical activity, exercise, produce muscle pain, breakdown of skeletal muscle, a condition, rhabdomyolysis, burgundy-colored urine, a risk, kidney failure, severe, contact health care provider, have repeated episodes of sore, cramped muscle after exercise, accompanied by burgundy, pink urine, consider genetic counseling, family history of mcardle disease.



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