Educational Series on MPS


This educational article provides an overview of the mucopolysaccharidoses (MPS) with an emphasis on how to recognise the early signs and symptoms or ‘red flags’ of this group of disorders. It discusses the importance of recognising possible MPS, steps to investigate and how to reach a diagnosis. Because undiagnosed MPS patients are often seen by several different specialists and sub-specialists, the signs and symptoms are categorised by specialty to enable an increased awareness so that a timely diagnosis can be achieved.

Research Review Australia,
independent commentary by Carolyn Ellaway

1-hour Reading


Learning Outcomes

  1. Name important information on the disease background and prevalence in Australia 
  2. Explain the importance of early diagnosis
  3. List a few treatment options on hand of the provided case study examples


General Medicine, Genetic Metabolic Disorders, Paediatrics, Mucopolysaccharidoses (MPS) 

Sponsor Note
This article was commissioned by Sanofi Genzyme and provided financial support for the creation of this article. BioMarin has supported financially the global advisory board responsible for researching and publishing the MPS red flags/corroborative symptoms – Clarke et al. JIEMS 2018;7:1-12. BioMarin and Sanofi Genzyme have no influence over the editorial content, which is entirely independent. The content may not reflect the views of BioMarin or Sanofi Genzyme. The case studies were provided by Associate Professor Carolyn Ellaway.


Research Review Australia
Reading: journal; textbook; book; literature review
1h : 0m
MBA - CPD: 1h : 0m
General Medicine
Nurse / Midwife, Paramedic

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Provided by

Authored by

  • A/P Carolyn Ellaway