{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T22:33:38Z","timestamp":1775774018707,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the <jats:italic>GPD1<\/jats:italic> gene, which encodes the cytosolic isoform of glycerol\u20103\u2010phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia. Whole exome sequencing revealed the affected individuals to harbor deleterious biallelic mutations in the <jats:italic>GPD1<\/jats:italic> gene, including the previously undescribed c.806G\u2009&gt;\u2009A (p.Arg269Gln) and c.640T\u2009&gt;\u2009C (p.Cys214Arg) mutations. The clinical features in three of our patients showed several differences compared to the original reports. One subject presented with recurrent episodes of fasting hypoglycemia along with hepatomegaly, hypetriglyceridemia, and elevated liver enzymes; the second showed a severe liver disease, with intrahepatic cholestasis associated with kidney involvement; finally, the third presented persistent hypertriglyceridemia at the age of 30 years. These findings expand the current knowledge of this rare disorder, both with regard to the phenotype and molecular basis. The enlarged phenotypic spectrum of glycerol\u20103\u2010phosphate dehydrogenase 1 deficiency can mimic other inborn errors of metabolism with liver involvement and should alert clinicians to recognize this entity by considering <jats:italic>GPD1<\/jats:italic> mutations in appropriate clinical settings.<\/jats:p>","DOI":"10.1007\/s10545-016-9956-7","type":"journal-article","created":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T06:34:03Z","timestamp":1467354843000},"page":"689-695","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Expanding the molecular diversity and phenotypic spectrum of glycerol 3\u2010phosphate dehydrogenase 1 deficiency"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-3379","authenticated-orcid":false,"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"first","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital Piazza S. Onofrio 4 Rome 00165 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyal","family":"Shteyer","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Institute Shaare Zedek Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Niceta","sequence":"additional","affiliation":[{"name":"Genetics and Rare Disease Research Division Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital Piazza S. Onofrio 4 Rome 00165 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Pode\u2010Shakked","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel\u2010Hashomer Israel"},{"name":"The Dr. Pinchas Borenstein Talpiot Medical Leadership Program Sheba Medical Center Tel\u2010Hashomer Israel"},{"name":"Sackler Faculty of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Chillemi","sequence":"additional","affiliation":[{"name":"CINECA, SCAI\u2010SuperComputing Applications and Innovation Department Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Bruselles","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology and Molecular Medicine Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Semeraro","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital Piazza S. Onofrio 4 Rome 00165 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[{"name":"Sheba Cancer Research Center Sheba Medical Center Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eran","family":"Eyal","sequence":"additional","affiliation":[{"name":"Sheba Cancer Research Center Sheba Medical Center Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitzan","family":"Kol","sequence":"additional","affiliation":[{"name":"Sheba Cancer Research Center Sheba Medical Center Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yael","family":"Haberman","sequence":"additional","affiliation":[{"name":"The Dr. Pinchas Borenstein Talpiot Medical Leadership Program Sheba Medical Center Tel\u2010Hashomer Israel"},{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH USA"},{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avishai","family":"Lahad","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Diomedi\u2010Camassei","sequence":"additional","affiliation":[{"name":"Division of Pathology Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dina","family":"Marek\u2010Yagel","sequence":"additional","affiliation":[{"name":"Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel\u2010Hashomer 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