Research Article

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

Published: September 21, 2017
Genet. Mol. Res. 16(3): gmr16032602 DOI:
Cite this Article:
A. Alonzo-Rojo, J.E. García-Ortiz, M. Ortiz-Aranda, M.P. Gallegos-Arreola, L.E. Figuera-Villanueva (2017). Clinical features of Mexican patients with Mucopolysaccharidosis type I.. Genet. Mol. Res. 16(3): gmr16032602.


Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity. Eleven Mexican patients with MPS-I from northwestern México were evaluated. Diagnoses were confirmed through quantification of GAGs in urine and enzyme assay for α--iduronidase. Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the disease. A better understanding of the spectrum of this disease can assist in diagnosis, treatment, and improvement in the quality of life for these patients.