LA MUCOPOLYSACCHARIDOSE DE TYPE I: EFFICACITE DU TRAITEMENT ENZYMATIQUE SUBSTITUTIF PAR LA LARONIDASE CHEZ UN CAS

Mucopolusaccharidosis Type I (MPS I) is a lysosomal storage disease due to α-L-iduronidase deficiency. Currently, the disease is treated buy the recombinant human α-L-iduronidase (laronidase). This study evaluates the clinical outcome and quality of life, after two years of traitement by laronidase in a 10 years aged boy, late diagnosed at age 8 with Hurler-Scheie syndrome. The results of the ETS are encouraging. Indeed, this treatment was benefic since it has improved his quality of life; however it have not cure his disease.