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. 2013 Sep;6(5):311-21.
doi: 10.1177/1756285613487570.

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

Corrado Angelini  1 , Anna Chiara Nascimbeni, Claudio Semplicini
Affiliations

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

Corrado Angelini et al. Ther Adv Neurol Disord. 2013 Sep.

Abstract

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.

Keywords: CPT2 deficiency; Glycogenosis type II; McArdle disease; RR-MADD; glycogenosis type III.

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Conflict of interest statement

Conflict of interest statement: The authors declare no conflicts of interest in preparing this article.

Figures

Figure 1.
Figure 1.
Quadriceps femoris muscle biopsy from a 28-year-old man with late-onset glycogenosis type II. Serial cross-sections (the asterisks indicate the same fiber in serial sections) show some atrophic and vacuolated fibers with hematoxylin and eosin stain (a), filled with periodic acid-Schiff-positive material (b), and positively reacting for acid phosphatase (c). Immunolabeling with caveolin-3 antibody (d) shows positive labeling at the sarcolemma, in the inner membranes, and faintly in the cytoplasm. Microscope magnification × 100.
Figure 2.
Figure 2.
Muscle biopsy from a 22-year-old woman with lipid storage myopathy (riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency). Vacuolated and atrophic fibers, hematoxylin and eosin stain (a), and lipid droplets in many fibers stained with oil red O stain (b).
See this image and copyright information in PMC

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