Clinical features of Mexican patients with Mucopolysaccharidosis type I

Genet Mol Res. 2017 Sep 21;16(3). doi: 10.4238/gmr16032602.

Abstract

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.

MeSH terms

  • Child
  • Female
  • Glycosaminoglycans / urine
  • Humans
  • Iduronidase / blood
  • Male
  • Mexico
  • Mucopolysaccharidosis I / blood
  • Mucopolysaccharidosis I / pathology*
  • Mucopolysaccharidosis I / urine

Substances

  • Glycosaminoglycans
  • Iduronidase