Introduction
McArdle disease (Glycogen storage disease type V, GSDV ) is an inherited
disorder of glycogen metabolism affecting only skeletal muscles. The
disease was first reported by Brian Mcardle. Brian McArdle described an
exercise intolerant patient who had muscle ache, cramps, and was unable
to produce lactate during ischemic exercise. (ischemic exercise?)
Afterward, glycogen phosphorylase deficiency was detected in the
patients. There was no detectable glycogen phosphorylase activity in the
most of the patients. (1-4) The deficiency of myophosphorylase disrupts
in muscle cells function and breakdown of the muscle cells.
Myophosphosrilase deficiency is an autosomal recessive disease caused by
mutations in the muscle isoform of phosphorylase (muscle glycogen
phosphorylase [PYGM]) found in 11q13. (5) Although the symptoms are
present in the first decade, the patients typically present in
adolescence or early adulthood with exercise intolerance, fatigue,
muscle pain, cramps, muscle swelling, and weakness. Creatinine kinase
(CK) elevation and rhabdomylosis attacks can be seen in the patients
(6). The aim of this study is to examine the results of a live donor
kidney transplant (not previously shared in the literature to the best
of our knowledge) before and after transplantation and to share our
observations and experiences.