title: Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.
abstract: Mucopolysaccharidosis type I (MPS I) is a progressive and multisystemic disease, even in its attenuated Hurler-Scheie and Scheie forms. Clinical trials of enzyme-replacement therapy in MPS I have shown clinical benefit in patients with considerable preexisting disease, but no data exist on the effect of beginning enzyme replacement before the onset of significant clinical signs of disease. Here we present the 5-year follow-up of a boy with attenuated MPS I who had laronidase therapy initiated at the age of 5 months and compare his clinical course to that of his older sister, who began treatment at 5 years of age after she had developed typical signs of MPS I. After 5 years of treatment, the younger sibling has not developed any clinical manifestations of MPS I except for mild corneal clouding. In contrast, although many of the older sibling's clinical features have improved after 5 years of treatment, her dysostosis multiplex, cardiac valve involvement, and corneal clouding, although stabilized, have persisted. We suggest that early treatment of attenuated MPS I may significantly delay or prevent the onset of the major clinical signs, substantially modifying the natural history of the disease.
authors.affiliation: Institute of Maternal-Infantile Sciences, Polytechnic University of Marche, Ancona, Italy. o.gabrielli@univpm.it
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
authors.forename: Lorne A
authors.initials: LA
authors.lastname: Clarke
authors.forename: Stefano
authors.initials: S
authors.lastname: Bruni
authors.forename: Giovanni V
authors.initials: GV
authors.lastname: Coppa
mesh_terms: D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005500:Follow-Up Studies; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D008134:Long-Term Care; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D010375:Pedigree; D018570:Risk Assessment; D012720:Severity of Illness Index; D035781:Siblings; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D007068:Iduronidase