Glycogen storage disease type II (GSD II), also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase (GAA). The reduced activity of this enzyme leads to the intralysosomal accumulation of glycogen in most tissues, including liver, skeletal and cardiac muscle [1]. It can present as an infantile form (IOPD) with failure to thrive, severe axial weakness, hypertrophic cardiomyopathy and rapid death [2]. Moreover, there is also a late-onset form of Pompe disease (LOPD) that presents after 1 year of age, usually beyond the first decade of life, it progresses in a gradual manner affecting mainly the skeletal muscles, and most often involves the diaphragm and leads to respiratory failure with the need for ventilator support [3].

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