The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan

The study hypothesis is to proceed and to undergo an intensively long-term clinical management and laboratory examinations for asymptomatic infants with MPS I in order to be able to give an enzyme replacement therapy (ERT) in a timely fashion. The overall objectives of this study are summarized as follows, including: 1. To plan a three-month or six-month interval of recall process depending on the judgment of individual case by pediatric geneticist. 2. To recall the asymptomatic MPS I infants back to MacKay Memorial Hospital for MPS follow-up examinations, including regular physical examinations for the earliest presenting symptoms such as otitis media, abdominal or inguinal hernia, and coarse facial features, as well as the urinary biochemistry glycosaminoglycan (GAG) tests. 3. To give ERT in time whenever the typical MPS signs or symptoms showed up. 4. To achieve the aim of newborn screening for MPS, "Early detection, making early diagnosis, and providing early therapy can effectively prevent the development of severe clinical manifestations".