Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
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Hematopoietic Cell Transplantation in Patients with Mucopolysaccharidosis Type II

  • Song, Ari (Department of Pediatrics, Incheon Sejong Hospital)
  • Received : 2021.03.30
  • Accepted : 2021.05.01
  • Published : 2021.06.30
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Abstract

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.

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References

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