{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T10:17:16Z","timestamp":1777889836334,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"1-2","license":[{"start":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T00:00:00Z","timestamp":1560470400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Translational Science of Rare Diseases"],"published-print":{"date-parts":[[2020,8,3]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss of the affected amino acids. LPI typically presents with gastrointestinal symptoms, such as vomiting, diarrhea, and failure to thrive.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CASE REPORT:<\/jats:title>\n                    <jats:p>A 4-year-old African-American boy presented with multiple respiratory tract infections, weight loss in the setting of chronic diarrhea and worsening abdominal distention, and multiple episodes of rectal prolapse. Development was unaffected. Laboratory examination demonstrated mild anemia, hypokalemia and hypoalbuminemia, transaminitis, and normal ammonia. Initial urine amino acid analysis did not show major elevations of lysine and ornithine, often lower than expected in the setting of malnutrition. Upon initiation of total parenteral nutrition (TPN), his urine amino acids showed a characteristic profile of dibasic aminoaciduria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>Failure to thrive, chronic diarrhea, and hepatomegaly should raise suspicion for LPI. Urine amino acids can be normal in this condition in the setting of malnutrition, a common complication of the disease. Additionally, it has been previously shown that the plasma arginine and ornithine concentration is higher in LPI subjects.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/trd-190035","type":"journal-article","created":{"date-parts":[[2019,6,18]],"date-time":"2019-06-18T12:26:00Z","timestamp":1560860760000},"page":"81-86","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis"],"prefix":"10.1177","volume":"5","author":[{"given":"Firas","family":"Alqarajeh","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Al-Quds University, Jerusalem, Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacklyn","family":"Omorodion","sequence":"additional","affiliation":[{"name":"The George Washington University School of Medicine and Health Sciences, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerri","family":"Bosfield","sequence":"additional","affiliation":[{"name":"Rare Disease Institute, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natasha","family":"Shur","sequence":"additional","affiliation":[{"name":"Rare Disease Institute, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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