Hs Info

MPS II is one of 7 mucopolysaccharidoses (MPS) diseases. It is a rare genetic metabolic disease, caused by a variety of possible mutations. MPS II can be inherited in an X-linked recessive pattern from mother to child or by de novo mutation. This means that a number of MPS II patients can present with a family history of the disorder. In this episode, our panel discuss the importance of assessing family history to decrease the diagnostic delay for MPS II. Learn about the benefits and challenges of assessing family history from the case studies of experts in the field: Professor Roberto Giugliani (Medical Genetics Service of Hospital de Porto Alegre, Brazil), Professor Anna Tylki-Szymanska (The Children’s Memorial Health Institute, Warsaw) and Professor Maurizio Scarpa (Udine University Hospital, Italy). This podcast series was initiated, organized and funded by Takeda Pharmaceutical Company Limited, and has been developed for an international HCP audience (outside the US and UK).