Language: English
Duration: 30 minutes, followed by questions from the audience



Presenter: Prof. Susanne Kircher, University of Vienna, Austria



     A short overview of the group of mucopolysaccharide storage diseases with special focus on
     mucopolysaccharidosis type I (MPS I)

  1. What are the typical signs of Hurler patients and what can we see in Scheie patients?
  2. How can the diagnosis be confirmed and why is it important for pediatricians as well as medical doctors for adults?



Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.

The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Endocrinologists, Pediatric Rheumatologists, and other physicians and healthcare professionals interested in Metabolic Diseases.


Watch the video!