{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T04:26:35Z","timestamp":1764476795258,"version":"3.46.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,5]]},"abstract":"Abstract<\/jats:title>\n \n The\u00a0\n IDUA<\/jats:italic>\n \u00a0gene (MIM 252800) provides instructions for producing alpha\u2010L\u2010iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the\u00a0\n IDUA<\/jats:italic>\n \u00a0gene have been found to cause Mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within\u00a0lysosomes causing many different\u00a0organs\u00a0and\u00a0tissues\u00a0to be dysfunctional. Deleted\n IDUA<\/jats:italic>\n gene has not been reported in the literature, which showed to be associated with a severe phenotype in our proband case. We report a child from a consanguineous family who presented with severe cardiogenic shock attributed to dilated cardiomyopathy. He was also found to have hepatosplenomegaly, joint stiffness, hearing loss, corneal hazing, facial dysmorphism, and dilation of brain ventricles. Lysosomal storage disease particularly MPS I was suspected though it is considered to be an early atypical presentation. The diagnosis was achieved via gene mutation analysis which showed homozygous\n IDUA<\/jats:italic>\n deletion of exon 9\u2032 to 3\u2032 in combination with a severe deficiency of alpha\u2010L\u2010iduronidase enzyme. A variant in the form of\n IDUA<\/jats:italic>\n gene deletion may indicate an early severe phenotypic presentation of MPS I. Establishment of the diagnosis permits genetic counseling, prevents patients from undergoing unhelpful diagnostic procedures, and allows for accurate prognosis.\n <\/jats:p>","DOI":"10.1002\/ccr3.5904","type":"journal-article","created":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T07:17:06Z","timestamp":1653635826000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Alpha\u2010L\u2010iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0166-7563","authenticated-orcid":false,"given":"Nuha Nasser","family":"Al Zaabi","sequence":"first","affiliation":[{"name":"Department of Pediatric Fujairah Hospital Ministry of health and prevention Fujairah UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muneera","family":"Sirajum","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ras Al Khaimah University Ras Al Khaimah UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3506-5165","authenticated-orcid":false,"given":"Mohd Zaki","family":"Al\u2010Wawi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ras Al Khaimah University Ras Al Khaimah UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Al Suwaiji","sequence":"additional","affiliation":[{"name":"Department of Medicine Tawam Hospital Department of Health Al Ain UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.25"},{"key":"e_1_2_11_3_1","first-page":"2","volume-title":"GeneReviews\u00ae","author":"Clarke LA","year":"1993"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060403"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010204"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9695"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5904","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.5904","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5904","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T04:24:04Z","timestamp":1764476644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.5904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/ccr3.5904"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.5904","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"2021-09-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e05904"}}