Enzyme replacement therapy for pompe disease

Corrado Angelini, Claudio Semplicini

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)70-75
Number of pages6
JournalCurrent Neurology and Neuroscience Reports
Volume12
Issue number1
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Acid maltase deficiency
  • Enzyme replacement therapy
  • Glycogenosis type II
  • Pompe disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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