Bone marrow transplantation (BMT) is effective in ameliorating many of the clinical manifestations of Hurler syndrome. However, long-term data on the natural history of the musculoskeletal disorders of Hurler syndrome after BMT are limited. The authors report the orthopaedic outcomes in seven patients with Hurler syndrome who were successfully engrafted between 1990 and 1999, and have been followed for a mean of 7.6 years since transplantation. Medical records, clinical examinations, and imaging studies were reviewed to assess the development and management of hip dysplasia, genu valgum, spine abnormalities, hand abnormalities, and joint range of motion. BMT does not appear to alter the natural history of the musculoskeletal disorders in Hurler syndrome, although there may be a beneficial effect on upper extremity joint mobility.
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http://dx.doi.org/10.1097/00004694-200401000-00019 | DOI Listing |
Pediatr Neurol
November 2024
Division of Pediatric Transplant and Cellular Therapy, Department of Pediatrics, Duke University, Durham, North Carolina.
Background: Hematopoietic cell transplantation (HCT) is the standard of care treatment for children with Hurler syndrome (HS). This study describes the impact of newborn screening (NBS) on HCT outcomes for these patients.
Methods: Retrospective study of HS patients diagnosed through NBS and referred to Duke from 2017 to 2023.
OMICS
November 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Hurler-Scheie syndrome (MPS IH/S), also known as mucopolysaccharidosis type I-H/S (MPS IH/S), is a lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase (IDUA) leading to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a wide range of symptoms affecting different organ systems. Postgenomic omics technologies offer the promise to understand the changes in proteome, phosphoproteome, and phosphorylation-based signaling in MPS IH/S. Accordingly, we report here a large dataset and the proteomic and phosphoproteomic analyses of fibroblasts derived from patients with MPS IH/S ( = 8) and healthy individuals ( = 8).
View Article and Find Full Text PDFBMC Genomics
October 2024
Research Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
Background: Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective study, spanning eight years, analyzed data from 45 MPSI patients. The report aimed to explore the potential origin of the p.
View Article and Find Full Text PDFMol Ther
November 2024
Department of Pediatrics, University of Minnesota, Minneapolis, MN 55454, USA; Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA; Center for Genome Engineering, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:
Enzymopathy disorders are the result of missing or defective enzymes. Among these enzymopathies, mucopolysaccharidosis type I is a rare genetic lysosomal storage disorder caused by mutations in the gene encoding alpha-L-iduronidase (IDUA), which ultimately causes toxic buildup of glycosaminoglycans (GAGs). There is currently no cure and standard treatments provide insufficient relief to the skeletal structure and central nervous system (CNS).
View Article and Find Full Text PDFCureus
August 2024
General Surgery, Nishtar Medical University, Multan, PAK.
This case report details a 12-year-old male diagnosed with Hurler syndrome, a rare autosomal recessive disorder caused by a deficiency in the enzyme alpha-L-iduronidase. The patient exhibited typical symptoms, including developmental delays, ocular clouding, and distinctive skeletal deformities, along with mild cognitive abnormalities. Despite the presence of traditional clinical signs and elevated urine heparin and dermatan sulfate levels confirming the diagnosis, access to advanced treatments such as enzyme replacement therapy was severely limited due to socioeconomic constraints and a lack of diagnostic facilities in the region.
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