Mucopolysaccharidoses and Oligosaccharidoses

Wraith, J. E.

doi:10.1007/978-3-642-15720-2_40

Cited by 5 publications

(2 citation statements)

References 29 publications

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“…Seizures are not rare, especially in older children. At the end of the first decade of life, there is a slow loss of skills, development of gait disorders and appearance of pyramidal signs, which lead eventually to a vegetative state and death, in general in the early 30s . Recent data suggest that MPS IIIA and B have more pronounced neuropathology than MPS I in mouse models .…”

Section: General Clinical Signs and Symptomsmentioning

confidence: 99%

Sanfilippo syndrome: Overall review

Andrade

Aldámiz‐Echevarría

Llarena

et al. 2015

Pediatrics International

104

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Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. It is characterized by progressive cognitive decline and severe hyperactivity, with relatively mild somatic features. This review focuses on clinical features, diagnosis, treatment, and follow-up of MPS III, and provides information about supplementary tests and differential diagnosis. Given that few reviews of MPS III have been published, several studies were compiled to establish diagnostic recommendations. Quantitative urinary glycosaminoglycan analysis is strongly recommended, and measurement of disaccharides, heparin cofactor II-thrombin complex and gangliosides is also used. Enzyme activity of the different enzymes in blood serum, leukocytes or fibroblasts, and mutational analysis for SGSH, NAGLU, HGSNAT or GNS genes are required to confirm diagnosis and differentiate four subtypes of MPS III. Although there is no global consensus for treatment, enzyme replacement therapy and gene therapy can provide appropriate results. In this regard, recent publications on treatment and follow-up are discussed.

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Section: General Clinical Signs and Symptomsmentioning

confidence: 99%

Sanfilippo syndrome: Overall review

Andrade

Aldámiz‐Echevarría

Llarena

et al. 2015

Pediatrics International

104

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“…Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease caused by deficiency of the enzyme α- l -iduronidase (EC 3.2.1.76) leading to accumulation of glycosaminoglycans (GAG) throughout the body and resulting in multi-system dysfunction (1,2). Intravenous enzyme replacement therapy with recombinant human α- l -iduronidase (rhIDU) has been available for the treatment of MPS I patients since 2003 (3).…”

Section: Introductionmentioning

confidence: 99%

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

Vera

Kan

et al. 2013

Pediatr Res

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BACKGROUND Intrathecal (IT) enzyme replacement therapy with recombinant human α-l-iduronidase (rhIDU) has been studied to treat glycosaminoglycan storage in the central nervous system of mucopolysaccharidosis (MPS) I dogs and is currently being studied in MPS I patients. METHODS We studied the immune response to IT rhIDU in MPS I subjects with spinal cord compression who had been previously treated with intravenous rhIDU. We measured concentrations of specific antibodies and cytokines in serum and cerebrospinal fluid collected prior to monthly IT rhIDU infusions and compared serologic findings to clinical adverse event reports to establish temporal correlations with clinical symptoms. RESULTS Five MPS I subjects participating in IT rhIDU trials were studied. One subject with symptomatic spinal cord compression had evidence of an inflammatory response with cerebrospinal fluid leukocytosis, elevated IL-5 and elevated IgG. This subject also complained of lower back pain and buttock parasthesias temporally correlated with serologic abnormalities. Clinical symptoms were managed with oral medication and serologic abnormalities resolved though this subject withdrew from the trial to have spinal decompressive surgery. CONCLUSION IT rhIDU was generally well tolerated in the subjects studied though one subject had moderate to severe clinical symptoms and serologic abnormalities consistent with an immune response.

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Drug monographs

2014

Neonatal Formulary 7

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Mucopolysaccharidoses and Oligosaccharidoses

Cited by 5 publications

References 29 publications

Sanfilippo syndrome: Overall review

Sanfilippo syndrome: Overall review

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

Drug monographs

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