Abstract
Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome (mucopolysaccharidosis IH — severe form), Scheie syndrome (mucopolysaccharidosis IS — mild form), Hurler-Scheie syndrome (mucopolysaccharidosis I H/S — moderate form). The article presents a case of Hurler syndrome affecting cardiac, musculoskeletal and nervous systems, as well as data on case follow-up and treatment of a child at a modern multiprofile inpatient hospital. The article demonstrates that unlike the only previously possible palliative treatment, modern methods of treatment, such as enzyme replacement therapy, transplantation of bone marrow stem cells, umbilical cord blood or peripheral sources of stem cells and orthopedic correction, are effective.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
