Language: English
Duration: 70 minutes, followed by questions from the audience



Presenter: Dr. Christina Lampe, Centre for Rare Diseases of the Department of Child Neurology, Epileptology and Social Medicine, Center for Paediatric and Adolescent Medicine, University Hospital of Gießen, Germany



    Part 1: Introduction and Overview - What is MPS & Alpha-mannosidosis?

  1. How to diagnose MPS/mannosidosis early (early, signs and symptoms).
  2. Exploring the latest diagnostic options available to you.
  3. Reviewing the pathophysiology of MPS /mannosidosis.

    Part 2: Red flags, Signs and symptom, the basis of diagnostics and when to refer if you suspect MPS or Alpha-

  1. Examining the multi-systemic features of the diseases.
  2. Reviewing how to best follow up with patients - what are the immediate next steps?
  3. Understanding the latest treatment options available to the patient.



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!