V Cosentini, A Cosaro, L Gammaro, P Tonin, M Scarpelli, S Campo, L Oldrizzi
INTRODUCTION: Mc Ardles disease, also known as Type V glycogen storage disease, is a rare deficiency of the enzyme glycogen phosphorylase in muscle cells, inherited as an autosomal recessive trait. In the absence of this enzyme, muscles cannot break down glycogen during exercise, so in patients affected by McArdles disease even moderate physical activity produces cramps, pain and fatigue. Anaerobic activity leads to severe fixed contractures and rhabdomyolisis with myoglobinuria and raised serum creatine-kinase, which, in turn, can lead to acute renal failure...
May 2013: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia