{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T15:50:37Z","timestamp":1775058637908,"version":"3.50.1"},"reference-count":27,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T00:00:00Z","timestamp":1682640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Deanship of Scientific Research at King Khalid University through the General Research Project","award":["GRP\/52\/43"],"award-info":[{"award-number":["GRP\/52\/43"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a rare inherited autosomal recessive lysosomal storage disorder. Despite several reports on MPS I-related neonatal interstitial lung disease, it is still considered to be an under-recognized disease manifestation. Thus, further study of MPS I is required to improve specific therapies and management strategies. The current report describes a late preterm baby (36 weeks gestational age) with neonatal onset of interstitial lung disease eventually diagnosed as MPS I. The neonate required prolonged respiratory support and oxygen supplementation that further escalated the likely diagnosis of inherited disorders of pulmonary surfactant dysfunction. Whole-exome sequencing confirmed the diagnosis of MPS I, following the observation of low levels of the enzyme \u03b1-L-iduronidase. The results highlight the necessity of considering MPS I-related pulmonary involvement in newborns with persistent respiratory insufficiency.<\/jats:p>","DOI":"10.3390\/diseases11020067","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T04:36:15Z","timestamp":1682656575000},"page":"67","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9858-9789","authenticated-orcid":false,"given":"Ali Alsuheel","family":"Asseri","sequence":"first","affiliation":[{"name":"Department of Child Health, King Khalid University, Abha 62529, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Alzoani","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulwahab M.","family":"Almazkary","sequence":"additional","affiliation":[{"name":"College of Medicine, King Khalid University, Abha 62529, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisreen","family":"Abdulaziz","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mufareh H.","family":"Almazkary","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samy Ailan","family":"Alahmari","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arul J.","family":"Duraisamy","sequence":"additional","affiliation":[{"name":"PerkinElmer Health Sciences Pvt Ltd., Tharamani 600113, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruti","family":"Sureshkumar","sequence":"additional","affiliation":[{"name":"PerkinElmer Health Sciences Pvt Ltd., Tharamani 600113, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"874267","DOI":"10.3389\/fmolb.2022.874267","article-title":"Editorial: Molecular Aspects of Mucopolysaccharidoses","volume":"9","author":"Pierzynowska","year":"2022","journal-title":"Front. 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