Clinical features of Mexican patients with Mucopolysaccharidosis type I

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 spectru...

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Bibliographic Details
Published in:Genetics and molecular research 2017-09, Vol.16 (3), p.1
Main Authors: Alonzo-Rojo, A, García-Ortiz, J E, Ortiz-Aranda, M, Gallegos-Arreola, M P, Figuera-Villanueva, L E
Format: Article
Language:English
Subjects:
Child
Cornea
Dysostosis
Enzymes
Female
Glycosaminoglycans
Glycosaminoglycans - urine
Hereditary diseases
Humans
Hurler's syndrome
Iduronidase - blood
L-Iduronidase
Male
Mexico
Mucopolysaccharidosis
Mucopolysaccharidosis I - blood
Mucopolysaccharidosis I - pathology
Mucopolysaccharidosis I - urine
Phenotypes
Quality of life
Urine
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Summary: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.
ISSN:1676-5680
DOI:10.4238/gmr16032602