{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T16:49:36Z","timestamp":1777654176807,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycerol\u20103\u2010phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the <jats:italic>GPD1<\/jats:italic> gene (GPD1; OMIM*138420). Very few cases are reported in literature. It usually manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, steatosis, and fibrosis. We report the case of a 16\u2010year\u2010old boy followed since the age of 1\u2009year for hepatomegaly, elevated liver enzymes, and persistent hypertriglyceridemia. Abdominal ultrasound showed diffuse liver echogenicity and liver biopsy disclosed cirrhosis with micro and macrovesicular steatosis. Next\u2010generation sequencing for metabolic and genetic liver diseases was conducted with the identification of the homozygous mutation c.895G&gt;A in <jats:italic>GPD1<\/jats:italic> gene resulting in the aminocidic substitution p.G299R. Considering the persistent and progressive increase of plasma triglycerides, fenofibrate treatment was started at 15\u2009years of age allowing triglyceride level reduction in the following 1\u2010year follow\u2010up.<\/jats:p>","DOI":"10.1002\/jmd2.12125","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T18:41:02Z","timestamp":1588272062000},"page":"25-31","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol\u20103\u2010phosphate dehydrogenase 1 deficiency"],"prefix":"10.1002","volume":"54","author":[{"given":"Lorenza","family":"Matarazzo","sequence":"first","affiliation":[{"name":"Department of Medicine, Surgery, and Health Sciences University of Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Ragnoni","sequence":"additional","affiliation":[{"name":"Section of Pediatrics, Department of Medical Sciences University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Malaventura","sequence":"additional","affiliation":[{"name":"Section of Pediatrics, Department of Medical Sciences University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberta","family":"Leon","sequence":"additional","affiliation":[{"name":"Research &amp; Innovation Srl (R&amp;I Genetics)  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Colavito","sequence":"additional","affiliation":[{"name":"Research &amp; Innovation Srl (R&amp;I Genetics)  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni Battista","family":"Vigna","sequence":"additional","affiliation":[{"name":"Medical Department University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Lanza","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Pathology Unit University of Ferrara  Ferrara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelio","family":"Sonzogni","sequence":"additional","affiliation":[{"name":"Department of Pathology ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Maggiore","sequence":"additional","affiliation":[{"name":"Section of Pediatrics, Department of Medical Sciences University of Ferrara  Ferrara Italy"},{"name":"Gastrointestinal, Liver and Nutrition Unit IRCCS Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9767-7"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.028"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.8"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9956-7"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38473"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12876-018-0827-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2107C"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03344156"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.2016-0138"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.2147\/VHRM.S3390"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2015.06.013"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-018-0965-8"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmd2.12125","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12125","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12125","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T07:30:21Z","timestamp":1693899021000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,30]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/jmd2.12125"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12125","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,30]]},"assertion":[{"value":"2020-02-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}