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.
Author Research Review Australia, independent commentary by Carolyn Ellaway
Type 1-hour Reading
Name important information on the disease background and prevalence in Australia
Explain the importance of early diagnosis
List a few treatment options on hand of the provided case study examples
Focus 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
Nurse / Midwife, Paramedic
This learning module is only available for AMA Members.