Therapeutic advances in the management of Pompe disease and other metabolic myopathies

Corrado Angelini, Anna Chiara Nascimbeni, Claudio Semplicini

Research output: Contribution to journalArticlepeer-review


The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease and also other pathologies. This article reviews new advances in the treatment of GSDII, the consensus about ERT, and its limitations. In addition, the most recent knowledge regarding the pathophysiology, phenotype, and genotype of the disease is discussed. Pharmacological, immunotherapy, nutritional, and physical/rehabilitative treatments for late-onset Pompe disease and other metabolic myopathies are covered, including treatments for defects in glycogen metabolism, such as glycogenosis type V (McArdle disease), and glycogenosis type III (debrancher enzyme deficiency), and defects in lipid metabolism, such as carnitine palmitoyltransferase II deficiency and electron transferring flavoprotein dehydrogenase deficiency, or riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Original languageEnglish
Pages (from-to)311-321
Number of pages11
JournalTherapeutic Advances in Neurological Disorders
Issue number5
Publication statusPublished - Sep 2013


  • CPT2 deficiency
  • Glycogenosis type II
  • glycogenosis type III
  • McArdle disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Pharmacology


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