Muscle pain in a 46-year-old woman
DOI:
https://doi.org/10.32818/reccmi.a2n1a11Keywords:
glycogen storage disease type V, McArdle disease, creatinine kinase, glycogen phosphorilase, PYGM deficiencyAbstract
A 46-year-old woman presented with weakness, muscular pain and persistent elevations of creatinine kinase. The analysis (including hormones, autoimmunity and serology), magnetic resonance and an electromyogram did not provide a conclusive diagnosis. However, after performing a muscle biopsy, we diagnosed a glycogen storage disease type V (McArdle disease). Glycogenosis occurs in a group of metabolic and genetic diseases characterized by a disorder in the catabolism of glycogen. The McArdle disease is defined by an absence of glycogen phosphorylase, an enzyme that catalyzes the conversion of glycogen to glucose-1-phosphate in muscle tissue.
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Copyright (c) 2017 Sofía de la Villa-Martínez, Beatriz San Millán-Tejado, Patricia Araoz-Sánchez-Dopico, Inés Vaqueiro-Rodríguez, MJ García-Martín
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