Mucopolysaccharidosis II
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
... Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of ...
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Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II
... Descriptively, brain MR imaging findings in MPS II pa- tients appeared to vary widely, ranging from near normal ap- pearing brain to grossly abnormal brain. Four patients had markedly enlarged ventricles and 2 of ...
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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
... MPS II due to significant morbidity and mortality as well as no obvious efficacy shown in cognitive involvement [19, ...MPS II patients, and reported that HSCT was effective for brain or heart involvement ...
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Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
... MPS II is variable: In patients with the severe form, the onset of clinical symptoms is usually be- tween 2 and 4 years of age, with progressive neurologic symptoms that lead to cognitive impairment ...
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Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II
... tients with MPS before and after bone marrow transplantation (BMT). The authors found an abnormal resonance peak at 3.7 ppm in the brain and urine of patients with MPS, higher than the myo-inositol (mIns) in a small case ...
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INEFFICACY OF FRESH FROZEN PLASMA THERAPY OF MUCOPOLYSACCHARIDOSIS II
... The abnormal skin activity levels of fl-galacto- sidase, p-glucuronidase, and N-acetylglucosamini- dase were unaltered three days after fresh frozen plasma infusion and, similarly, the a[r] ...
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Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
... MPS II and also augmented our knowledge of many aspects of the management of patients with the ...MPS II community, and we look forward to seeing what the future holds for therapies currently in development ...
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From hypertransaminasemia to mucopolysaccharidosis IIIA
... Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents ...
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CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)
... following intra-CSF delivery of AAV9-Ids vectors to MPSII mice (Figure 8B) at an age at which lysosomal pathology is already present (Supplemental Figure 3E), providing further evid[r] ...
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Arylsulfatase B deficient mucopolysaccharidosis in rats
... dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but ...
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MR imaging of the brain in patients with mucopolysaccharidosis
... 1 Age Gender Type of MPS Main clinical findings Gargoylism Corneal clouding Dysostosis multiplex Cardiac involvement Hepatosplenomegaly Hearing loss Mental retardation MR findings Prolon[r] ...
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Diagnostic and treatment strategies in mucopolysaccharidosis VI
... seems straightforward, there are several complicating factors. It is not uncommon to observe a strong signal of DS with a faint signal of HS in patients with MPS I or II. Therefore, even if DS is detected, other ...
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Role of elosulfase alfa in mucopolysaccharidosis IVA
... elosulfase alfa over a 36-week dose escalation period of 12 weeks each of 0.1, 1.0, and 2.0 mg/kg per week, followed by 36–48 weeks of additional treatment at 1.0 mg/kg per week. MOR-004 is a multinational, multicenter, ...
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Mucopolysaccharidosis I: Management and Treatment Guidelines
... with mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respi- ratory, gastrointestinal, and musculoskeletal assessments, and ...
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Body Composition of Individuals with Mucopolysaccharidosis
... I, II, IV and VI, aged from five to 13 years: except for MPS I and II, all had bone mineral density below the expected for their age group in the spine region ...
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Management Guidelines for Mucopolysaccharidosis VI
... Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often ...
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Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
... In the present study, five IDS sequence variants (IVS3- 16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A). have been identified in Tunisian MPS II patients, including one ...
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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
... Most of the patients with moderate to severe cognitive impairment or those belonging to the severe phenotype had the following mutations: p.Q75*, p.P86Rfs*44, p.R88H, p.W109*, p.Q121*, p.R172*, p.L209Wfs*4, p.R468Q, ...
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Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II
... been previously fitted for hearing de- vices, and 25% of these patients did not actively use their aids because of con- current cognitive deterioration that made the benefit of using the aids questionable. ...
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Videolaryngoscope-Assisted Fibreoptic Tracheal Intubation in a Young Adolescent with Hunter Syndrome for Posterior Cervical Fusion
... Children with Mucopolysaccharidosis (MPS) represent a number of significant anaesthetic challenges (1, 2). The deposition of glycosaminoglycans (GAG) in the soft tissue of the oropharynx has been associated with ...
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