Abstract
 Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It a rare genetic disorder due to deficiency in enzyme Iduronate 2-sulphatase. This leads accumulation glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly extracellularly, leading abnormalities different organ systems body. definitive diagnosis requires bioch...

Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2), one had adrenoleukodystrophy (ALD) and one had Gaucher disease. Five patien...

Introduction. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) (mucopolysaccharidosis MPS II) is a progressive multisystem disorder. Neurodegenerative course characterizes the severe (neuronopathic) form of II. Pathogenetic therapy for disease under development, and symptomatic neurological treatment to be improved. Natural history data are required rationalization care assessment emerge...

The Sleeping Beauty transposon system, a non-viral, integrating vector that can deliver the alpha-L-iduronidase-encoding gene, is efficient in correcting mucopolysaccharidosis type I in NOD/SCID mice. However, in previous studies we failed to attain reliable long-term alpha-L-iduronidase expression in immunocompetent mice. Here, we focused on achieving sustained high-level expression in immunoc...

PURPOSE To describe knee alignment in children of different ages with severe mucopolysaccharidosis (MPS) I and II and the outcome of treatment with guided growth in a patient subgroup. METHODS This is a retrospective observational study of 58 knees in 29 children with severe MPS I and II. Long-leg standing radiographs were evaluated to determine mechanical axis deviation, mechanical lateral d...

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...

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescen...