{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:01:28Z","timestamp":1760148088418,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler\u2013Scheie, and Scheie syndrome spectrum. Case presentation: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12\/c.1205G&gt;A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. Conclusion: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient.<\/jats:p>","DOI":"10.3390\/children10040642","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T02:23:46Z","timestamp":1680143026000},"page":"642","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mucopolysaccharidosis Type I in Mexico: Case-Based Review"],"prefix":"10.3390","volume":"10","author":[{"given":"Consuelo","family":"Cant\u00fa-Reyna","sequence":"first","affiliation":[{"name":"Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico"},{"name":"Medical Department, Genomi-k, Monterrey 64060, Mexico"},{"name":"Centro M\u00e9dico, ISSSTELEON, Monterrey 64000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana Laura","family":"Vazquez-Cantu","sequence":"additional","affiliation":[{"name":"Medical Department, Genomi-k, Monterrey 64060, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2815-6619","authenticated-orcid":false,"given":"H\u00e9ctor","family":"Cruz-Camino","sequence":"additional","affiliation":[{"name":"Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico"},{"name":"Medical Department, Genomi-k, Monterrey 64060, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuriria Arlette","family":"Narv\u00e1ez-D\u00edaz","sequence":"additional","affiliation":[{"name":"Centro M\u00e9dico, ISSSTELEON, Monterrey 64000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d3scar","family":"Flores-Caloca","sequence":"additional","affiliation":[{"name":"Centro M\u00e9dico, ISSSTELEON, Monterrey 64000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d3scar","family":"Gonz\u00e1lez-Llano","sequence":"additional","affiliation":[{"name":"Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico"},{"name":"Centro M\u00e9dico, ISSSTELEON, Monterrey 64000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Araiza-Lozano","sequence":"additional","affiliation":[{"name":"Medical Department, Genomi-k, Monterrey 64060, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"G\u00f3mez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey 64710, Mexico"},{"name":"Medical Department, Genomi-k, Monterrey 64060, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.jpeds.2016.11.036","article-title":"Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management","volume":"182","author":"Clarke","year":"2017","journal-title":"J. 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