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Mucopolysaccharidosis Type I in Mexico: Case-Based Review

Consuelo Cantú-Reyna1,2,3, Diana Laura Vazquez-Cantu2, Héctor Cruz-Camino1,2

  • 1Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico.

Children (Basel, Switzerland)
|May 16, 2023
PubMed
Abstract

Insights

This case study highlights a Mexican patient with Mucopolysaccharidosis type I (MPS I), a rare genetic disorder. Combined therapy of enzyme replacement and stem cell transplantation proved beneficial for managing this condition.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease affecting glycosaminoglycans metabolism.
  • Caused by variants in the IDUA gene, MPS I presents a spectrum of clinical severity.
  • Affects approximately 1 in 100,000 newborns.
Keywords:
MexicoMucopolysaccharidosis Iiduronidase

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