McArdle’s disease

Glycogen storage disease type V.

Most common glycogen storage disease with autosomal recessive inheritance caused by mutations in the gene encoding for myophosphorylase, an essential enzyme for glycogen breakdown.

Patients usually present in childhood with exercise intolerance, muscle pain and cramps.

Can lead to myoglobinuria, renal insufficiency and recurrent bouts of rhabdomyolysis.

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