Trusted Resources: Education
Scientific literature and patient education texts
Long-Term Evolution of Mucopolysaccharidosis Type I in Twins Treated With Enzyme Replacement Therapy Plus Hematopoietic Stem Cells Transplantation
authors: Carbajal-Rodríguez LM,Pérez-García M,Rodríguez-Herrera R,Rosales HS,Olaya-Vargas Asummary/abstract:
Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome. The diseases are caused by a deficiency of the enzyme α-L-iduronidase which is responsible for the degradation of glycosaminoglycans (GAGs or mucopolysaccharides). More than 100 mutations in the gene have been reported, resulting in marked clinical/response variability. MPSs usually present as multisystem and progressive clinical disorders which affect psychomotor and cardiovascular development, the cornea and the musculoskeletal system. Seven phenotypically distinct diseases have been described, and MPS type I (MPS-I) is divided into three clinical forms: severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome) or mild (Scheie syndrome). For the treatment of MPS-I, Enzyme Replacement Therapy (ERT) with α-L-iduronidase and Hematopoietic Stem Cells Transplantation (HSCT), separately or in combination, have produced clinical improvement, especially with regards cardiovascular symptoms and psychomotor development. This article presents the long-term (more than seven years) follow-up of monochorionic, diamniotic twins who were diagnosed with MPS-I at an early stage, and treated with ERT (from age 10 months) plus HSCT (from age 18 months). Overall, the treatment has facilitated stable development with an overall good response and better control of symptoms associated with MPS-I.organization: Lysosomal Storage, Rare and Degenerative Diseases Clinic, Instituto Nacional de Pediatría, Insurgentes Sur 3700 - C, Insurgentes Cuicuilco, Mexico City, 04530, Mexico.
Mount Sinai – Lysosomal Storage Disease ProgramThe Mount Sinai Hospital’s Lysosomal S...
Elizabeth F. Neufeld, PhDBorn in France, Elizabeth Neufeld immigr...
The Beginning of the End of Allogeneic Transplantation for Hurler SyndromeHurler syndrome (mucopolysaccharidosis t...
Denali Therapeutics Announces Fast Track Designation Granted by the U.S. FDA to ETV:IDS (DNL310) for the Treatment o...Denali Therapeutics Inc., a biopharmaceu...
MPS I: Early Diagnosis, Bone Disease and Treatment, Where Are We NowMucopolysaccharidosis type I (MPS I) is ...
The MPS I-H Diagnostic Journeyhttps://www.youtube.com/watch?v=jSq5tQD4...
Fatal Care Research FoundationFatal Care Research Center inaugurated a...