Advertisement

Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa

  • Julie Van Houtte
  • Jan L. De BleeckerEmail author
Letter to the Editor
  • 17 Downloads

Introduction

Pompe disease or glycogen storage disease type II (PD) is an autosomal recessive muscular disorder caused by mutations in the gene encoding the enzyme acid alpha-glucosidase. Deficiency of this enzyme results in the accumulation of glycogen in muscles, which causes progressive deterioration of muscular strength and function. Depending on the age of symptom onset, PD can present as the infantile onset form, usually presenting shortly after birth and rapidly progressing, or as the late-onset form (LOPD), most commonly presenting during adulthood. There is a very broad spectrum of clinical presentations, but a limb-girdle distribution of muscle weakness is one of the most common and often one of the earliest symptoms. As the disease progresses, the respiratory muscles also become affected in many patients, with respiratory failure as the most common cause of death [1, 2]. To slow this process down, many patients suffering from PD are treated with enzyme replacement therapy...

Keywords

Pompe disease Enzyme replacement therapy Pregnancy Myopathy 

Notes

Compliance with ethical standards

Conflict of interest

None of the authors has anything to report regarding this article.

Ethical approval

This article does not describe any studies performed on human participants or animals.

Informed consent

The patient approved in writing reporting the observations to the medical community and to a dedicated pregnancy registry for Myozyme-treated patients.

References

  1. 1.
    Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webbb LD, Case LE, Jones HN, Kishnani PS (2017) The emerging phenotype of late-onset Pompe disease: a systematic literature review. Mol Genet Metab 120(3):163–172CrossRefGoogle Scholar
  2. 2.
    Rohman PJ, Scott E, Richfield L, Ramaswami U, Hughes DA (2016) Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease). J Obstet Gynaecol 42(10):1263–1271Google Scholar
  3. 3.
    Papadopoulos C et al (2017) Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. Mol Genet Metab 122(1–2):80–85CrossRefGoogle Scholar
  4. 4.
    Stepien KM, Hendriksz CJ, Roberts M, Sharma R (2016) Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years. Mol Genet Metab 117(4):413–418CrossRefGoogle Scholar
  5. 5.
    de Vries JM, Brugma JDC, Özkan L, Steegers EAP, Reuser AJJ, van Doorn PA, van der Ploeg AT (2011) First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab 104(4):552–555CrossRefGoogle Scholar

Copyright information

© Belgian Neurological Society 2019

Authors and Affiliations

  1. 1.Department of Neurology and Neuromuscular Reference CentreGhent University HospitalGhentBelgium

Personalised recommendations