{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T22:33:39Z","timestamp":1775774019063,"version":"3.50.1"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0053_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (<jats:italic>GPD1<\/jats:italic>) gene. HTGTI is characterized by hypertriglyceridemia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Here, we reported first Turkish HTGTI patient with a novel mutation of <jats:italic>GPD1<\/jats:italic>, having hypertriglyceridemia, hepatomegaly, growth retardation and hepatic steatosis. He is the first case who needs transfusion until 6th month in GPD1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0053_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 2-month-27-day-old boy, who had growth retardation, hepatomegaly and anemia suffered to our hospital with vomiting. Triglyceride level was 1603\u202fmg\/dL (n&lt;150). Liver transaminases were elevated and hepatic steatosis was developed. He needed transfusion with erythrocyte suspension until 6th month. Etiology could not be elucidated by clinical and biochemical parameters. A\u00a0novel homozygous c.936_940del (p.His312GlnfsTer24) variant was detected in the <jats:italic>GPD1<\/jats:italic> gene by Clinical Exome Analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0053_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>GPD1 deficiency should be investigated in the\u00a0presence of unexplained hypertriglyceridemia and hepatic steatosis in children especially in infants.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0053","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T05:20:31Z","timestamp":1684732831000},"page":"704-707","source":"Crossref","is-referenced-by-count":2,"title":["A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (<i>GPD1<\/i>) gene"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0112-0624","authenticated-orcid":false,"given":"Dilek","family":"Gunes","sequence":"first","affiliation":[{"name":"Division of Inborn Metabolic Disease, Department of Pediatrics , Bezmialem Vakif University Hospital , Fatih\/\u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozlem","family":"Kalaycik Sengul","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics , Istanbul Kanuni Sultan Suleyman Training and Research Hospital , K\u00fc\u00e7\u00fck\u00e7ekmece\/\u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyli","family":"Senturk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Istanbul Bagcilar Training and Research Hospital , Ba\u011fc\u0131lar\/\u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,5,23]]},"reference":[{"key":"2023070813115019991_j_jpem-2023-0053_ref_001","doi-asserted-by":"crossref","unstructured":"Ou, X, Ji, C, Han, X, Zhao, X, Li, X, Mao, Y, et al.. Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1). J Mol Biol 2006;357:858\u201369. https:\/\/doi.org\/10.1016\/j.jmb.2005.12.074.","DOI":"10.1016\/j.jmb.2005.12.074"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_002","doi-asserted-by":"crossref","unstructured":"Basel-Vanagaite, L, Zevit, N, Har Zahav, A, Guo, L, Parathath, S, Pasmanik-Chor, M, et al.. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 2012;90:49\u201360. https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.028.","DOI":"10.1016\/j.ajhg.2011.11.028"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_003","doi-asserted-by":"crossref","unstructured":"Joshi, M, Eagan, J, Desai, NK, Newton, SA, Towne, MC, Marinakis, NS, et al.. A\u00a0compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet 2014;22:1229\u201332. https:\/\/doi.org\/10.1038\/ejhg.2014.8.","DOI":"10.1038\/ejhg.2014.8"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_004","doi-asserted-by":"crossref","unstructured":"Dionisi-Vici, C, Shteyer, E, Niceta, M, Rizzo, C, Pode-Shakked, B, Chillemi, G, et al.. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency. J Inherit Metab Dis 2016;39:689\u201395. https:\/\/doi.org\/10.1007\/s10545-016-9956-7.","DOI":"10.1007\/s10545-016-9956-7"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_005","doi-asserted-by":"crossref","unstructured":"Wang, J, Sun, X, Jiao, L, Xiao, Z, Riaz, F, Zhang, Y, et al.. Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene. Front Genet 2022;13:916672. https:\/\/doi.org\/10.3389\/fgene.2022.916672.","DOI":"10.3389\/fgene.2022.916672"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_006","doi-asserted-by":"crossref","unstructured":"Li, N, Chang, G, Xu, Y, Ding, Y, Li, G, Yu, T, et al.. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. Am J Med Genet 2017;173:3189\u201394. https:\/\/doi.org\/10.1002\/ajmg.a.38473.","DOI":"10.1002\/ajmg.a.38473"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_007","doi-asserted-by":"crossref","unstructured":"Matarazzo, L, Ragnoni, V, Malaventura, C, Leon, A, Colavito, D, Vigna, GB, et al.. Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency. JIMD Rep 2020;54:25\u201331. https:\/\/doi.org\/10.1002\/jmd2.12125.","DOI":"10.1002\/jmd2.12125"},{"key":"2023070813115019991_j_jpem-2023-0053_ref_008","doi-asserted-by":"crossref","unstructured":"Fessas, P, Anagnou, NP, Loukopoulos, D. Glycerol-3-phosphate dehydrogenase activity in the red cells of patients with thalassemia. Blood 1980;55:564\u20139. https:\/\/doi.org\/10.1182\/blood.v55.4.564.564.","DOI":"10.1182\/blood.V55.4.564.564"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0053\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0053\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,8]],"date-time":"2023-07-08T13:13:31Z","timestamp":1688822011000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0053\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,23]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,5,25]]},"published-print":{"date-parts":[[2023,7,26]]}},"alternative-id":["10.1515\/jpem-2023-0053"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2023-0053","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,23]]}}}