Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis

Fiona Stewart*, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R. Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Jennifer Semotok, Sue Graham, Stephen Sande, Zlatko Sisic, Tracey A. Johnston

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired vision, and/ or hearing and shortened life spans.Whereas in the past, few individuals with MPS reached adulthood, better diagnosis,multidisciplinary care, and new therapies have led to an increasing number of adult patients with MPS. Therefore, fertility and pregnancy questions in this patient population are becoming more important. Management of fertility issues and pregnancy in patients with MPS is challenging due tothe lackof documented cases and a dearth in the literatureon this topic.This reviewpresentsmultidisciplinary expert opinions on managing fertility and pregnancy based on case studies and clinical experience presented at a meeting of MPS specialists held in Berlin, Germany, in April 2015. An overview of the existing literature on this subject is also included.

Original languageEnglish (US)
JournalJournal of Inborn Errors of Metabolism and Screening
StatePublished - 2016


  • Adult
  • Expert opinions
  • Fertility
  • Mucopolysaccharidoses
  • Pregnancy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Genetics(clinical)


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