High-dose enzyme replacement therapy in murine Hurler syndrome
نویسندگان
چکیده
منابع مشابه
Enzyme replacement in a canine model of Hurler syndrome.
The Hurler syndrome (alpha-L-iduronidase deficiency disease) is a severe lysosomal storage disorder that is potentially amenable to enzyme-replacement therapy. Availability of a canine model of the disease and a sufficient supply of corrective enzyme have permitted a therapeutic trial lasting 3 mo. Recombinant human alpha-L-iduronidase, purified to apparent homogeneity from secretions of a stab...
متن کاملEnzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age ...
متن کاملLong-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapi...
متن کاملOvercoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.
Enzyme replacement therapy (ERT) effectively reverses storage in several lysosomal storage diseases. However, improvement in brain is limited by the blood-brain barrier except in the newborn period. In this study, we asked whether this barrier could be overcome by higher doses of enzyme than are used in conventional trials. We measured the distribution of recombinant human beta-glucuronidase (h...
متن کاملProgression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.
BACKGROUND Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT). METHODS We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. RESULTS Urinary glucosaminoglycan excretion decreased by 70% after one month of ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2014
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2013.09.008