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[Mucopolysaccharidosis: A review]

M Michaud1, N Belmatoug2, F Catros1

  • 1Centre de compétence des maladies lysosomales de l'adulte, hôpital Joseph-Ducuing, 31076 Toulouse, France; Médecine interne, hôpital Joseph-Ducuing, 31076 Toulouse, France.

La Revue De Medecine Interne
|January 22, 2020
PubMed

Insights

Mucopolysaccharidoses are rare genetic disorders caused by enzyme deficiencies leading to mucopolysaccharide buildup. Early diagnosis and enzyme replacement therapy improve patient outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases.
  • They result from the accumulation of glycosaminoglycans (mucopolysaccharides) due to enzyme deficiencies.
  • Type 1 MPS is the most prevalent form, affecting approximately 0.69–1.66 per 100,000 live births.

Purpose of the Study:

  • To highlight the clinical variability and common symptoms of mucopolysaccharidoses.
  • To emphasize the importance of early recognition and diagnosis for effective patient management.
  • To inform about diagnostic methods and available treatments, including enzyme replacement therapy.

Main Methods:

  • Review of clinical manifestations and diagnostic approaches for mucopolysaccharidoses.
  • Analysis of screening methods, including urinary glycosaminoglycan analysis.
  • Confirmation of diagnosis through enzyme assays and genetic testing.

Main Results:

  • Mucopolysaccharidoses present with a wide spectrum of severity, from in utero lethality to adult-onset forms.
  • Common clinical features include short stature, facial dysmorphism, joint pain, skeletal abnormalities, hepatosplenomegaly, and carpal tunnel syndrome.
  • Ocular, neurological, and cardiac complications can occur depending on the specific MPS type.

Conclusions:

  • Prompt clinical suspicion and diagnosis of mucopolysaccharidoses are crucial for timely intervention.
  • Diagnostic workup involves biochemical and genetic analyses.
  • Enzyme replacement therapy is available for certain types, underscoring the importance of early detection for improved management and family screening.

Keywords:
GlycosaminoglycanesGlycosaminoglycansHurlerMorquioMucopolysaccharidoseMucopolysaccharidosisSanfilippoScheie

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