Journal of mucopolysaccharidosis and rare diseases

  • 제4권2호
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  • Pages.37-41
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  • 2018
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  • 2465-8936(pISSN)
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  • 2465-9452(eISSN)
뮤코다당증연구학회 (Association for Research of MPS and Rare Diseases)
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Innovative Therapeutic Approaches for Mucopolysaccharidosis III

  • Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine)
  • 투고 : 2018.12.08
  • 심사 : 2018.12.19
  • 발행 : 2018.12.31
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초록

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

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참고문헌

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