{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T11:07:22Z","timestamp":1775732842984,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"vor","delay-in-days":98,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002383","name":"King Saud University","doi-asserted-by":"publisher","award":["ORF-RC-2025-0500"],"award-info":[{"award-number":["ORF-RC-2025-0500"]}],"id":[{"id":"10.13039\/501100002383","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Gastroenterology Research and Practice"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background and Objectives<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>GPD1<\/jats:italic>\n                      gene, which encodes glycerol\u20103\u2010phosphate dehydrogenase 1 (GPD1), are a rare cause of monogenic hypertriglyceridemia (HTG) during childhood. This study is aimed at providing a detailed analysis of the clinical, laboratory, and molecular characteristics of all patients affected by biallelic\n                      <jats:italic>GPD1<\/jats:italic>\n                      gene variants, including three cases from our center.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A literature search was conducted across the English MEDLINE, PubMed, and Embase databases from 1966 to 2023 for the studies that reported on GPD1 deficiency with confirmed\n                      <jats:italic>GPD1<\/jats:italic>\n                      gene variants using the search words HTG and\n                      <jats:italic>GPD1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 39 children (including three from our center) were identified with 15 pathogenic mutations in\n                      <jats:italic>GPD1<\/jats:italic>\n                      reported in 14 articles from 5 ethnicities (15 Arabs, 14 Caucasians, 4 Chinese, 5 Indian\/South Asian, and 1 Turkish): 8 missense variants (one compound heterozygous), 3 nonsense, 3 frameshifts, and 1 splicing. Three of the 15 variants likely originated from a common ancestor, \u201cthat is, founder in nature\u201d: p.I119fs\u221794 (Palestinian Arabs), p.Gly299Arg (Czech population), and p.Thr251Asnfs\u221710 (Saudi Arabia). The median age at presentation was 9 months. All patients manifested hepatomegaly, elevated transaminases, and HTG. Nineteen patients underwent liver biopsy; all showed micro\u2010 and macrosteatosis, mild to moderate portal fibrosis in 58% (11 out of 19), and cirrhosis in the remaining eight cases (42%). Follow\u2010up data showed that HTG normalized in 28% of patients (11 out of 39) but persisted mildly in the remaining 72% (28 out of 39).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>GPD1<\/jats:italic>\n                      gene should be considered in children with hepatomegaly, hepatic steatosis, and HTG. This study indicates that\n                      <jats:italic>GPD1<\/jats:italic>\n                      deficiency may not be a transient or benign condition, as previously considered, due to the persistence of HTG and liver pathology in a significant proportion of cases. Identifying specific GPD1 variants may expedite targeted molecular analysis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/grp\/9986415","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T10:23:48Z","timestamp":1775730228000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Laboratory, and Molecular Characteristics of\n                    <i>GPD1<\/i>\n                    Gene Variants: A Cause of Hepatomegaly and Hepatic Steatosis in Early 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