Abstract
Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Recently, both infantile and adult GSDII patients have been treated with enzyme replacement therapy (ERT), and a number of studies including large cohorts of GSDII patients have recently demonstrated that ERT is effective in modifying the natural course of the disease. The opportunity of this new treatment gave new hope to patients, but also an important impulse to the research on every feature of the disease, leading to a deeper knowledge on the response to treatment, on clinical manifestations, and on pathophysiologic aspects such as the role of autophagy and immune status.
Original language | English |
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Pages (from-to) | 70-75 |
Number of pages | 6 |
Journal | Current Neurology and Neuroscience Reports |
Volume | 12 |
Issue number | 1 |
DOIs | |
Publication status | Published - Feb 2012 |
Keywords
- Acid maltase deficiency
- Enzyme replacement therapy
- Glycogenosis type II
- Pompe disease
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)