Inborn errors of metabolism. Report of four cases with type I, II and VI mucopolysaccharidosis in three families

  • Juan Manuel Aparicio Rodríguez Benemérita Universidad Autónoma de Puebla

Abstract

Four cases of mucopolysaccharidosis (MPS) are reported in three families. One family has two daughters affected with variant of Hurler's syndrome, another family with Hunter syndrome and the last family with a child with Maroteaux-Lamy syndrome. The MPS are a group of inherited disorders caused by degradation and accumulation of acid mucopolysaccharides. Clinical manifestations result from the deposition of mucopolysaccharides in various organs. All MPS has identified specific deficit degenerative lysosomal enzyme.

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Published
2015-01-18
How to Cite
Aparicio Rodríguez, J. M. (2015). Inborn errors of metabolism. Report of four cases with type I, II and VI mucopolysaccharidosis in three families. RIDE Revista Iberoamericana Para La Investigación Y El Desarrollo Educativo, 2(3), 189 - 208. Retrieved from https://ride.org.mx/index.php/RIDE/article/view/41
Section
Medical and Health