{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T10:00:10Z","timestamp":1762941610549,"version":"3.45.0"},"reference-count":8,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,22]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by variants in the\n                    <jats:italic>SLC7A7<\/jats:italic>\n                    gene, leading to impaired transport of dibasic amino acids across intestinal and renal membranes. This results in postprandial hyperammonaemia due to deficiencies in lysine, arginine and ornithine, crucial substrates for the urea cycle. It commonly presents in infancy with recurrent vomiting, diarrhoea and encephalopathy. Diagnosis involves molecular genetic testing for the\n                    <jats:italic>SLC7A7<\/jats:italic>\n                    gene variant. In this case, the rarity of the neuroimaging findings and the identification of an ultra-rare mutation contribute to the expanding clinical and genetic spectrum of LPI. Despite therapeutic advancements, the prognosis of LPI hinges on the progression of pulmonary and renal complications, underscoring the importance of comprehensive care and monitoring.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-266564","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T09:55:15Z","timestamp":1762941315000},"page":"e266564","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum"],"prefix":"10.1136","volume":"18","author":[{"given":"Garima","family":"Singh","sequence":"first","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences\u2014Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Navjot","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences\u2014Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-5017","authenticated-orcid":false,"given":"Prashant K","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences\u2014Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Poonam","family":"Sherwani","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, All India Institute of Medical Sciences\u2014Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,12]]},"reference":[{"key":"2025111201550809000_18.11.e266564.1","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1007\/BF02723953","article-title":"Burden of genetic disorders in India","volume":"67","author":"Verma","year":"2000","journal-title":"Indian J Pediatr"},{"key":"2025111201550809000_18.11.e266564.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30287"},{"key":"2025111201550809000_18.11.e266564.3","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/j.ymgme.2003.11.015","article-title":"Lysinuric protein intolerance: mechanisms of pathophysiology","volume":"81 Suppl 1","author":"Palac\u00edn","year":"2004","journal-title":"Mol Genet Metab"},{"key":"2025111201550809000_18.11.e266564.4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20589"},{"key":"2025111201550809000_18.11.e266564.5","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.humpath.2016.12.021","article-title":"Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions","volume":"62","author":"Est\u00e8ve","year":"2017","journal-title":"Hum Pathol"},{"key":"2025111201550809000_18.11.e266564.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.010"},{"key":"2025111201550809000_18.11.e266564.7","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.metabol.2007.11.019","article-title":"Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance","volume":"57","author":"Tanner","year":"2008","journal-title":"Metab Clin Exp"},{"key":"2025111201550809000_18.11.e266564.8","doi-asserted-by":"crossref","first-page":"S72","DOI":"10.1016\/j.ymgme.2010.02.019","article-title":"New insights in nutritional management and amino acid supplementation in urea cycle disorders","volume":"100 Suppl 1","author":"Scaglia","year":"2010","journal-title":"Mol Genet Metab"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266564","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T09:55:16Z","timestamp":1762941316000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":8,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,12]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-266564"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266564","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}