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Hunter disease before and during enzyme replacement therapy.

Björn Hoffmann1, Gudrun Schulze-Frenking, Sulaiman Al-Sawaf

  • 1Department of General Pediatrics, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany. mail@kinderarzt-hoffmann.de

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|August 10, 2011
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Summary

Enzyme replacement therapy shows promise for Hunter disease (Mucopolysaccharidosis type II), improving physical and visceral symptoms across a spectrum of neurological involvement. This treatment benefits patients regardless of their specific genetic mutation.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type II (Hunter disease) is an X-linked lysosomal storage disorder caused by alpha-L-iduronate-sulfatase deficiency.
  • Glycosaminoglycan accumulation in tissues and body fluids characterizes the disease pathology.

Observation:

  • Three patients with Hunter disease, exhibiting a range of neurological involvement (none, moderate, severe), were treated with enzyme replacement therapy (ERT).
  • Patients presented with varying genetic mutations, including missense and frame shift types.

Findings:

  • All patients demonstrated significant improvements in visceral organ size, physical capacity, and gastrointestinal function following ERT.
  • Height gain, enhanced upper limb function, and reduced respiratory infections were observed across all treated individuals.
  • ERT response was independent of the specific genetic mutation, and adverse events were generally mild infusion reactions.

Implications:

  • Enzyme replacement therapy is a viable treatment option for Hunter disease, offering benefits to patients with and without central nervous system involvement.
  • ERT may improve quality of life and reduce disease burden in individuals with Mucopolysaccharidosis type II.
  • Further research into long-term outcomes and optimal ERT strategies for Hunter disease is warranted.