Two successfully completed pregnancies in adult onset Pompe disease, under continued treatment with alglucosidase alfa
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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...
KeywordsPompe disease Enzyme replacement therapy Pregnancy Myopathy
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None of the authors has anything to report regarding this article.
This article does not describe any studies performed on human participants or animals.
The patient approved in writing reporting the observations to the medical community and to a dedicated pregnancy registry for Myozyme-treated patients.
- 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