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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Roberto Giugliani1, Andressa Federhen, Maria Verônica Muñoz Rojas

  • 1, Rede MPS Brasil Brazil.

Genetics and Molecular Biology
|June 4, 2011
PubMed

Insights

Mucopolysaccharidoses (MPS) are rare genetic disorders treated with enzyme replacement therapy (ERT). Brazilian centers have treated over 200 patients with MPS I, II, and VI using ERT, offering new hope.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic lysosomal storage diseases.
  • Deficiency in glycosaminoglycan (GAG) breakdown leads to GAG accumulation and multisystemic complications.
  • Historically, treatment was supportive; bone marrow transplantation had limited application due to risks.

Purpose of the Study:

  • To summarize the experience of Brazilian medical centers with enzyme replacement therapy (ERT) for MPS I, II, and VI.
  • To harmonize information on managing these progressive genetic diseases.
  • To present new prospects for Brazilian patients undergoing ERT.

Main Methods:

  • Review of clinical trial data and patient treatment experience in Brazil.
  • Synthesis of international literature on MPS management.
  • Focus on ERT for MPS types I, II, and VI.

Main Results:

  • Over 200 patients with MPS I, II, and VI have been treated with ERT across Brazil.
  • Significant experience has been gained in ERT administration and patient management.
  • ERT has emerged as a viable therapeutic option for these rare genetic disorders.

Conclusions:

  • Enzyme replacement therapy (ERT) represents a significant advancement in managing MPS I, II, and VI.
  • Brazilian medical centers possess substantial experience in ERT for MPS patients.
  • This collective experience offers improved therapeutic prospects for individuals with these rare genetic conditions.
Keywords:
Hunter syndromeHurler syndromeMaroteaux-Lamy syndromeenzyme replacement therapymucopolisaccharidosestreatment guidelines

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