An Introduction to the MPS Family, presented by Professor Roberto Giugliani

Expert geneticist Roberto Giugliani is a professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas in Porto Alegre, Brazil.

In this episode of the MPS Webinar Series, Professor Giugliani, provides an overview of the seven MPS disease, including key information about common symptoms and the diagnostic process and an insightful discussion of a case study of an MPS patient.

The mucopolysaccharidosis (MPS) diseases are 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 do not have enough, or any, of an enzyme that is needed to break down a sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and can cause damage to cells.1

There are seven types of MPS disease that each lack different enzymes required to break down GAGs. All of the MPS disorders are progressive, meaning they worsen with time. They are also all heterogeneous, meaning that they can affect different people differently, often resulting in a spectrum of clinical severity from mildly to severely affected.1

For more information on MPS II (also known as Hunter Syndrome), please visit http://www.huntersyndrome.info/

The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice.

For more information about upcoming webinars, please visit: //www.huntersyndrome.info/hcp

Takeda Pharmaceutical Company Limited. All rights reserved.

C-ANPROM/INT//6889 January 2020

References:
1. 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.

Видео An Introduction to the MPS Family, presented by Professor Roberto Giugliani канала Hunter Syndrome