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The emerging phenotype of late-onset Pompe disease: A systematic literature review

Molecular Genetics and Metabolism, Volume 120, Issue 3, March 2017, Pages 163 - 172

Abstract

Background

Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype.

Purpose

To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006.

Methods

All articles were included in the review that provided data on the charactertistics of LOPD identified via the PubMed database published since the approval of ERT in 2006. All signs and symptoms of the disease that were reported in the literature were identified and included in the review.

Results

We provide a comprehensive review of the evolving phenotype of LOPD. Our findings support and extend the knowledge of the multisystemic nature of the disease.

Conclusions

With the advent of ERT and the concurrent increase in the scientific study of LOPD, the condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.

Keywords: Pompe disease, Glycogen storage disease type II, Late-onset Pompe disease, Natural history, Multisystem disease.

Footnotes

a Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA

b Department of Neurology, Division of Neuromuscular Medicine, Duke University Medical Center, Durham, NC, USA

c Doctor of Physical Therapy Division, Department of Orthopedics, Duke University School of Medicine, Duke University, Durham, NC, USA

d Department of Surgery, Division of Head and Neck Surgery & Communication Sciences, Duke University, Durham, NC, USA

Corresponding author at: Duke University Medical Center, 905 South LaSalle Street, GSRB1, Durham, NC 27710, USA.