EC Paediatrics

Mucopolysaccharidosis type I (MPS1) is a lysosomal storage disease caused by α-L-iduronidase deficiency. The therapeutic approach of the disease with recombinant human α-L-iduronidase (laronidase), with a significant improvement in patient’s quality of life in various studies.

This review evaluates clinical, paraclinical outcomes, and patients quality of life, after an average of 13.5 months of laronidase treatment in two patients, diagnosed after the age of 9 with Hurler syndrome. The outcome was satisfactory. The treatment improved the patient’s quality of life, but not curative.

 Keywords: Mucopolysaccharidosis Type I; Enzyme Replacement Therapy; Laronidase; Storage Diseases; Quality of Life

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