Clinical features of Mexican patients with Mucopolysaccharidosis type I.
Genet Mol Res
; 16(3)2017 Sep 21.
Article
in En
| MEDLINE
| ID: mdl-28973713
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mucopolysaccharidosis I
Aspects:
Patient_preference
Limits:
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Mexico
Language:
En
Journal:
Genet Mol Res
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2017
Document type:
Article