{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T04:21:09Z","timestamp":1783138869776,"version":"3.54.6"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Lysinuric protein intolerance (LPI) is a rare disorder of dibasic amino acid transport associated with secondary urea cycle defects and immune dysregulation. Pregnancy in LPI is seldom reported and presents significant management challenges. We report a 25\u2010year\u2010old woman with genetically confirmed LPI complicated by prior hemophagocytic lymphohistiocytosis (HLH) and systemic lupus erythematosus (SLE) who presented with an unplanned pregnancy. Early gestation was characterised by metabolic instability, including transient hyperammonaemia and elevated orotic acid, which improved with optimisation of nitrogen scavenger therapy and nutritional support. Progressive severe thrombocytopenia and anaemia developed during the second trimester and were managed as presumed immune thrombocytopenia with corticosteroids and intravenous immunoglobulin. Delivery by caesarean section at 35\u2009weeks resulted in favourable maternal and neonatal outcomes. To our knowledge, this represents the first reported case of pregnancy in LPI complicated by established immune dysregulation (HLH and SLE) and severe thrombocytopenia, defining a previously uncharacterised high\u2010risk phenotype with a favourable outcome.<\/jats:p>","DOI":"10.1002\/jmd2.70109","type":"journal-article","created":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T04:01:23Z","timestamp":1783137683000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3387-9210","authenticated-orcid":false,"given":"Eamon P.","family":"McCarron","sequence":"first","affiliation":[{"name":"Adult Inherited Metabolic Disorders, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"},{"name":"Faculty of Health, University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Hill","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Disorders, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Lomas","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Disorders, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Elliott","sequence":"additional","affiliation":[{"name":"The Yorkshire &amp; Humber Maternal Medicine Network  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Walkinshaw","sequence":"additional","affiliation":[{"name":"The Yorkshire &amp; Humber Maternal Medicine Network  Sheffield UK"},{"name":"Endocrinology Department Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Bonnett","sequence":"additional","affiliation":[{"name":"The Yorkshire &amp; Humber Maternal Medicine Network  Sheffield UK"},{"name":"Obstetrics and Maternal Medicine, Jessop Wing, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kar\u2010Ping","family":"Kuet","sequence":"additional","affiliation":[{"name":"Rheumatology Department Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Tattersall","sequence":"additional","affiliation":[{"name":"Haematology Department Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Mapplebeck","sequence":"additional","affiliation":[{"name":"Haematology Department Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14801"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12392"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010024\u201005215\u2010w"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100620\u20106"},{"issue":"935","key":"e_1_2_8_6_1","first-page":"1","article-title":"Protein and Amino Acid Requirements in Human Nutrition","author":"Joint WHO\/FAO\/UNU Expert Consultation","year":"2007","journal-title":"World Health Organization Technical Report Series"},{"key":"e_1_2_8_7_1","volume-title":"Weight Management in Pregnancy and During the Postnatal Period. 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