{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:21:37Z","timestamp":1791397297687,"version":"4.3.3"},"reference-count":67,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,1,1]]},"abstract":"<jats:p>OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (\u223c1 case per 100000 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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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 (&amp;gt;2 years or \u22642 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).<\/jats:p>\n               <jats:p>CONCLUSION. 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.<\/jats:p>","DOI":"10.1542\/peds.2008-0416","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T15:58:03Z","timestamp":1230566283000},"page":"19-29","source":"Crossref","is-referenced-by-count":406,"title":["Mucopolysaccharidosis I: Management and Treatment Guidelines"],"prefix":"10.1542","volume":"123","author":[{"given":"Joseph","family":"Muenzer","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorne A.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"and the International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2009,1,1]]},"reference":[{"key":"2021120905111360300_R1","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2001:3421\u20133452"},{"key":"2021120905111360300_R2","unstructured":"Hopkin RJ, Grabowski GA. Lysosomal storage diseases. In: Fauci A, Kasper D, Braunwald E, et al, eds. Harrison's Principles of Internal Medicine. 17th ed. New York, NY: McGraw Hill; 2005:2452\u20132456"},{"key":"2021120905111360300_R3","doi-asserted-by":"crossref","unstructured":"Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA.\u20081999;281(3):249\u2013254","DOI":"10.1001\/jama.281.3.249"},{"key":"2021120905111360300_R4","doi-asserted-by":"crossref","unstructured":"Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat.\u20081995;6(4):288\u2013302","DOI":"10.1002\/humu.1380060403"},{"key":"2021120905111360300_R5","doi-asserted-by":"crossref","unstructured":"Bunge S, Clements PR, Byers S, Kleijer WJ, Brooks DA, Hopwood JJ. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim Biophys Acta.\u20081998;1407(3):249\u2013256","DOI":"10.1016\/S0925-4439(98)00046-5"},{"key":"2021120905111360300_R6","doi-asserted-by":"crossref","unstructured":"Hopwood JJ, Muller V. Biochemical discrimination of Hurler and Scheie syndromes. Clin Sci (Lond).\u20081979;57(3):265\u2013272","DOI":"10.1042\/cs0570265"},{"key":"2021120905111360300_R7","doi-asserted-by":"crossref","unstructured":"Beesley C, Meaney C, Greenland G, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 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Mol Genet Metab.\u20082007;91(1):37\u201347","DOI":"10.1016\/j.ymgme.2007.01.011"},{"key":"2021120905111360300_R14","doi-asserted-by":"crossref","unstructured":"Hall CW, Liebaers I, Di Natale P, Neufeld EF. Enzymatic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol.\u20081978;50:439\u2013456","DOI":"10.1016\/0076-6879(78)50048-7"},{"key":"2021120905111360300_R15","doi-asserted-by":"crossref","unstructured":"Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem.\u20082001;47(12):2098\u20132102","DOI":"10.1093\/clinchem\/47.12.2098"},{"key":"2021120905111360300_R16","unstructured":"Aronovich EL, Pan D, Whitley CB. Molecular genetic defect underlying \u03b1-l-iduronidase pseudodeficiency. Am J Hum Genet.\u20081996;58(1):75\u201385"},{"key":"2021120905111360300_R17","doi-asserted-by":"crossref","unstructured":"Wraith JE. 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