{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T08:21:01Z","timestamp":1772180461196,"version":"3.50.1"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"\n Mucopolysaccharidosis (MPS) represents a group of rare inherited metabolic disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) due to deficiencies of lysosomal enzymes. Mucopolysaccharidosis type I (MPS I) is caused by biallelic pathogenic variants in the\n IDUA<\/jats:italic>\n gene and is inherited in an autosomal recessive pattern. The\n IDUA<\/jats:italic>\n gene is located on chromosome 4p16.3 and encodes the lysosomal enzyme\n \u03b1<\/jats:italic>\n -L-iduronidase, which plays a critical role in the degradation of GAGs, particularly dermatan sulfate and heparan sulfate. Reduced or absent\n IDUA<\/jats:italic>\n enzymatic activity leads to the progressive accumulation of undegraded substrates within lysosomes, resulting in multisystem organ involvement. Based on clinical severity, MPS I is traditionally classified into three phenotypic subtypes: the severe form (Hurler syndrome), the intermediate form (Hurler\u2013Scheie syndrome), and the attenuated form (Scheie syndrome, MPS I-S). This report describes a 13-year-old female patient in whom compound heterozygous pathogenic variants in the\n IDUA<\/jats:italic>\n gene were identified by genetic testing, and whose clinical manifestations were consistent with the MPS I-S. In addition to typical skeletal and joint abnormalities, the patient also presented with uterine developmental abnormality. Currently, there is no definitive evidence supporting a direct causal relationship between MPS I and uterine developmental abnormalities; however, this case suggests a potential association between MPS I and reproductive system developmental abnormalities. This case may help further expand the phenotypic spectrum of MPS I and enhance clinical awareness of its multisystem involvement.\n <\/jats:p>","DOI":"10.3389\/fped.2026.1768349","type":"journal-article","created":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T06:51:27Z","timestamp":1772175087000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality"],"prefix":"10.3389","volume":"14","author":[{"given":"Yuwan","family":"Xu","sequence":"first","affiliation":[{"name":"Changzhi Medical College","place":["Changzhi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Jincheng People\u2019s Hospital","place":["Jincheng, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liuxi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Jincheng People\u2019s Hospital","place":["Jincheng, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sancong","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Jincheng People\u2019s Hospital","place":["Jincheng, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yajie","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Jincheng People\u2019s Hospital","place":["Jincheng, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1838","DOI":"10.3390\/cells9081838","article-title":"Mucopolysaccharidosis type I: a review of the natural history and molecular 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