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Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
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Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry

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[Mucopolysaccharidosis: clinical features, diagnosis and management]

Jorge Luis Suarez-Guerrero1, Pedro José Iván Gómez Higuera2, Juan Sebastian Arias Flórez2

  • 1UIS-HUS, Grupo de investigación en Genética Humana, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Colombia.

Revista Chilena De Pediatria
|November 29, 2015
PubMed

Insights

Mucopolysaccharidoses (MPS) are rare genetic disorders caused by enzyme deficiencies leading to cellular damage. Early diagnosis and multidisciplinary management, including enzyme replacement therapy, are crucial for treating specific MPS types.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Characterized by enzyme deficiencies in lysosomal glycosaminoglycan (GAG) metabolism.
  • Leads to progressive cellular damage and potential organ failure.

Purpose of the Study:

  • To review the diagnosis and treatment of specific mucopolysaccharidoses.
  • To highlight the importance of early identification for timely intervention.
  • To discuss available management strategies for MPS.

Main Methods:

  • Review of clinical manifestations for diagnosis.
  • Biochemical analyses to identify accumulating GAGs.
  • Enzymatic determination to confirm specific MPS subtypes.

Main Results:

  • Diagnosis relies on clinical presentation, GAG accumulation, and enzyme deficiencies.
  • Multidisciplinary management is essential for MPS patients.
  • Enzyme replacement therapy is available for MPS I, II, IV, and VI.

Conclusions:

  • Early diagnosis of MPS is critical for effective treatment initiation.
  • Comprehensive management strategies improve patient outcomes.
  • Targeted therapies offer hope for individuals with specific MPS types.
Keywords:
Hunter syndromeHurler syndromeHurler-Scheie syndromeMucopolisacaridosisMucopolysaccharidosisSanfilippo syndromeSly syndromeSíndrome de HunterSíndrome de HurlerSíndrome de Hurler-ScheieSíndrome de SanfilippoSíndrome de Sly

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