COURSE DESCRIPTION

Language: English 

Duration: 30 minutes

Topic: Metabolic Diseases, MPS

Speaker: Prof. SUZANNE KIRCHER, University of Vienna, Austria

Learning Objectives

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

•  What are the typical signs of Hurler patients and what can we see in Scheie patients?

•  How can the diagnosis be confirmed and why is it important for pediatricians as well as medical doctors for adults?