{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:56:06Z","timestamp":1791820566979,"version":"4.3.4"},"reference-count":8,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,6,28]]},"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the <jats:italic>SLC22A5<\/jats:italic> gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting. Though acute liver failure is infrequently described, young children presenting as acute liver failure should be screened for fatty acid oxidation defects including PCD by testing plasma for amino acids and further confirmed by genetic sequencing. Early identification and treatment using L-carnitine is lifesaving. Our patient presented as acute liver failure and diagnosis of PCD was confirmed by metabolic screening and genetic sequencing. He responded to the treatment.<\/jats:p>","DOI":"10.1136\/bcr-2021-247225","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T12:50:11Z","timestamp":1658235011000},"page":"e247225","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Rare case of primary carnitine deficiency presenting as acute liver failure"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7513-4164","authenticated-orcid":false,"given":"Shalu","family":"Jain","sequence":"first","affiliation":[{"name":"Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karunesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smita","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupam","family":"Sibal","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"2025082701384189000_15.7.e247225.1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1159\/000448321","article-title":"Primary carnitine deficiency and newborn screening for disorders of the carnitine cycle","volume":"68 Suppl 3","author":"Longo","year":"2016","journal-title":"Ann Nutr Metab"},{"key":"2025082701384189000_15.7.e247225.2","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-7-68","article-title":"Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management","volume":"7","author":"Magoulas","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"2025082701384189000_15.7.e247225.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30087"},{"key":"2025082701384189000_15.7.e247225.4","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s13312-016-0913-1","article-title":"Metabolic liver diseases presenting as acute liver failure in children","volume":"53","author":"Alam","year":"2016","journal-title":"Indian Pediatr"},{"key":"2025082701384189000_15.7.e247225.5","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s11154-020-09568-3","article-title":"Clinical manifestations and management of fatty acid oxidation disorders","volume":"21","author":"Merritt","year":"2020","journal-title":"Rev Endocr Metab Disord"},{"key":"2025082701384189000_15.7.e247225.6","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9076-8"},{"key":"2025082701384189000_15.7.e247225.7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3"},{"key":"2025082701384189000_15.7.e247225.8","first-page":"422","article-title":"Slc22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation","volume":"42","author":"Yoon","year":"2012","journal-title":"Ann Clin Lab Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-247225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:38:47Z","timestamp":1756283927000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-247225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7,19]]},"published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1136\/bcr-2021-247225"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-247225","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}