Professor Maurizio Scarpa: a metabolic paediatrician’s experience with MPS II

Professor Maurizio Scarpa is a world-leading expert on Hunter syndrome (also known as mucopolysaccharidosis type II, MPS II), having been involved in the research and management of this rare disease, as a paediatrician since 1986. In this video, Professor Scarpa explores how Hunter syndrome develops and the differences between the neuronopathic and non-neuronopathic forms of the disease. He also discusses how the disease affects families, and shares his personal experience of what it is like to support and care for MPS II patients. The mucopolysaccharidosis (MPS) diseases represent a group of rare, genetic, metabolic disorders. All MPS diseases are inherited in a recessive pattern, meaning that some people might be carriers of the disease but are unaffected. MPS II is different from the other MPS diseases because its inheritance is X-linked, meaning that males are almost exclusively affected.¹ People with MPS II do not have enough of an enzyme that is needed to break down a specific type of sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and cause damage to cells.² For more information on Hunter syndrome (MPS II), please visit http://www.huntersyndrome.info/ The views and clinical experiences shared in this video are those of the Speaker, and not necessarily those of the Sponsor. The resources mentioned and the information found on this channel are not exhaustive, and are not intended to diagnose or advise about the treatment of any illness or disease. This information should not be used in place of advice from a general practitioner or other healthcare professional. For more videos featuring world-class MPS experts, please visit our channel at: https://www.youtube.com/channel/UCvcT... C-ANPROM/INT/HUNS/0105 February 2021 Takeda Pharmaceutical Company Limited. All rights reserved. References: 1. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004; 144 (5 Suppl): S27-34. 2. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72.