{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T01:07:35Z","timestamp":1793236055697,"version":"4.5.0"},"reference-count":9,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,3,21]]},"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>Hypertriglyceridaemia in infancy is usually secondary to underlying metabolic disorder which usually has a genetic basis unlike the adult population. One such recently described entity is transient infantile hypertriglyceridaemia (HTGTI). In this disorder, mutation in glycerol-3-phosphate (G3P) dehydrogenase gene leads to deficiency of G3P dehydrogenase resulting in hypertriglyceridaemia and hepatomegaly. Clinical features tend to improve with age but may develop fibrosis. Our patient presented in infancy with hypoglycaemia, hepatomegaly, high transaminases and hypertriglyceridaemia. Limited genetic test for glycogen storage disorder was negative and was kept under follow-up. On follow-up, he developed hepatic lesion and his hepatomegaly with hypertriglyceridaemia persisted. There are only a few cases reported worldwide and none has reported development of adenoma so far. This could be the first report of development of adenoma in transient HTGTI.<\/jats:p>","DOI":"10.1136\/bcr-2022-248801","type":"journal-article","created":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T11:50:29Z","timestamp":1648813829000},"page":"e248801","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma"],"prefix":"10.1136","volume":"15","author":[{"given":"Karunesh","family":"Kumar","sequence":"first","affiliation":[{"name":"Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smita","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupam","family":"Sibal","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,4,1]]},"reference":[{"key":"2025082709325475000_15.4.e248801.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.028"},{"key":"2025082709325475000_15.4.e248801.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.8"},{"key":"2025082709325475000_15.4.e248801.3","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s10545-016-9956-7","article-title":"Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency","volume":"39","author":"Dionisi-Vici","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"2025082709325475000_15.4.e248801.4","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.726116","article-title":"Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia","volume":"12","author":"Lin","year":"2021","journal-title":"Front Genet"},{"key":"2025082709325475000_15.4.e248801.5","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s12098-021-03663-2","article-title":"Transient infantile hypertriglyceridemia and hepatic steatosis in an infant with GPD1 mutation","volume":"88","author":"Kumar","year":"2021","journal-title":"Indian J Pediatr"},{"key":"2025082709325475000_15.4.e248801.6","doi-asserted-by":"crossref","DOI":"10.1186\/s12876-018-0827-6","article-title":"A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report","volume":"18","author":"Li","year":"2018","journal-title":"BMC Gastroenterol"},{"key":"2025082709325475000_15.4.e248801.7","first-page":"923","article-title":"Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review]","volume":"58","author":"Xie","year":"2020","journal-title":"Zhonghua Er Ke Za Zhi Chin J Pediatr"},{"key":"2025082709325475000_15.4.e248801.8","doi-asserted-by":"crossref","first-page":"3189","DOI":"10.1002\/ajmg.a.38473","article-title":"Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature","volume":"173","author":"Li","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2025082709325475000_15.4.e248801.9","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000025697","article-title":"Transient infantile hypertriglyceridemia with jaundice: a case report","volume":"100","author":"Wang","year":"2021","journal-title":"Medicine"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-248801","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:33:05Z","timestamp":1756312385000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-248801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4,1]]},"published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1136\/bcr-2022-248801"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-248801","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}