title: Mucopolysaccharidosis I: management and treatment guidelines.
abstract: OBJECTIVE
  Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition.
  
  
  METHODS
  Twelve international experts on mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for mucopolysaccharidosis I. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Recommendations are based on our extensive clinical experience and a review of the literature.
  
  
  RESULTS
  All patients with mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, and should be monitored every 6 to 12 months with individualized specialty assessments, to monitor disease progression and effects of intervention. Patients are best treated by a multidisciplinary team. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The patient's age (>2 years or < or =2 years), predicted phenotype, and developmental quotient help define the risk/benefit profile for hematopoietic stem cell transplantation (higher risk but can preserve central nervous system function) versus enzyme replacement therapy (low risk but cannot cross the blood-brain barrier).
  
  
  CONCLUSIONS
  We anticipate that provision of a standard of care for the treatment of patients with mucopolysaccharidosis I will optimize clinical outcomes and patients' quality of life.
authors.affiliation: Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA. muenzer@med.unc.edu
authors.forename: Joseph
authors.initials: J
authors.lastname: Muenzer
authors.forename: James E
authors.initials: JE
authors.lastname: Wraith
authors.forename: Lorne A
authors.initials: LA
authors.lastname: Clarke
mesh_terms: D019468:Disease Management; D006801:Humans; D038622:Internationality; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D016896:Treatment Outcome