Corneal opacification associated with glycosaminoglycan (GAG) deposition occurs in canine mucopolysaccharidosis I (MPS I), a deficiency of the lysosomal enzyme alpha-L-iduronidase. In affected dogs corneal lesions appear similar to those in children with the same disease. Transplantation of bone marrow from unaffected littermates was performed in 5 MPS I affected dogs at 5 months of age. In thr...

1. a-L-Iduronidase activity was assayed by incubation of iduronosyl anhydro[ l-3H]mannitol 6-sulphate with homogenates of cultured skin fibroblasts, amniotic cells and leucocytes derived from normal individuals, patients affected with GLiduronidase deficiency disorder (mucopolysaccharidosis type I: Hurler, Scheie and Hurler-Scheie compound) and parents of such patients. 2. The assay for cc-L-id...

Pag. 1 Background 2 1. Lysosomal storage disease 2 Pathogenetic events in lysosomal storage diseases 2 New therapeutic options for lysosomal storage diseases 5 Gene therapy by retroviral vectors 10 2. Mucopolysaccharidosis IIIB 14 Aims of the PhD thesis 16 Matherials and Methods 17 Chemicals 17 Animals 17 Western Blotting 17 Primary cortical neuronal cultures 18 Confocal immunofluorescence anal...

OBJECTIVES To characterize the stomatognathic system and stomatognathic functions in patients with mucopolysaccharidosis. METHODS Cross-sectional and observational study of patients with mucopolysaccharidosis seen at the outpatient clinic at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre. The inclusion criteria were the existence of a biochemical or molecular diagnosis o...

10.1586/14750708.3.1.9 © 200 Since enzyme-replacement therapy has been successfully introduced for patients with Gaucher disease, Fabry disease and mucopolysaccharidosis Type I, the principle of this treatment has also been taken into consideration for individuals who are affected by mucopolysaccharidosis Type VI (Maroteaux–Lamy disease), a rare lysosomal storage disorder with multiple organ an...

OBJECTIVE To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. METHODS Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with alpha-l-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and ...

BACKGROUND Treatments now available for mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, alpha-L-iduronidase. METHODS We synthesized a new alpha-L-iduronidase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an inter...