Abstract
Glycogen storage disease type II (GSD II), also known as Pompe disease, is an autosomal recessive inherited disorder, caused by a reduced activity of the alfa glucosidase. Two different clinical forms have been described: a rapidly fatal infantile form and a late onset form. Hearing loss has been described in classic infantile Pompe patients (Van Capelle C. et al., 2010) but, so far, no extensive studies have been performed in the late onset form. The main purpose of this study was to investigate the possible involvement of the auditory system in a cohort of patients with the late onset GSD II.
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