{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T02:06:25Z","timestamp":1784685985590,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009965","name":"Dalian Science and Technology Bureau","doi-asserted-by":"publisher","award":["2019J13SN84"],"award-info":[{"award-number":["2019J13SN84"]}],"id":[{"id":"10.13039\/501100009965","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fructose\u20101,6\u2010bisphosphatase (FBPase) deficiency, caused by an <jats:italic>FBP1<\/jats:italic> mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a pediatric patient with typical FBPase deficiency who presented with hypoglycemia, hyperlactatemia, metabolic acidosis, and hyperuricemia. Whole\u2010exome sequencing was used to search for pathogenic genes, Sanger sequencing was used for verification, and molecular dynamic simulation was used to evaluate how the novel mutation affects FBPase activity and structural stability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Direct and allele\u2010specific sequence analysis of the <jats:italic>FBP1<\/jats:italic> gene (NM_000507) revealed that the proband had a compound heterozygote for the c. 490 (exon 4) G&gt;A (p. G164S) and c. 861 (exon 7) C&gt;A (p. Y287X, 52), which he inherited from his carrier parents. His father and mother had heterozygous G164S and Y287X mutations, respectively, without any symptoms of hypoglycemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results broaden the known mutational spectrum and possible clinical phenotype of <jats:italic>FBP1<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2339","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T10:34:58Z","timestamp":1702982098000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel compound heterozygous mutations of the <i>FBP1<\/i> gene in a patient with hypoglycemia and lactic acidosis: A case report"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8150-0558","authenticated-orcid":false,"given":"Bin","family":"Xin","sequence":"first","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"},{"name":"College of Pharmacy Dalian Medical University  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0922-6184","authenticated-orcid":false,"given":"Haiming","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Emergency Medicine Dalian Women and Children's Medical Group  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianyi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"},{"name":"College of Pharmacy Dalian Medical University  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingyang","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"},{"name":"College of Pharmacy Dalian Medical University  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"},{"name":"College of Pharmacy Dalian Medical University  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5957-8486","authenticated-orcid":false,"given":"Zhong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutics Dalian Women and Children's Medical Group  Dalian Liaoning China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9034-5"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)92474-8"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799368"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1085"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1515\/tjb-2019-0473"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1067338"},{"issue":"3","key":"e_1_2_12_8_1","first-page":"219","article-title":"Status epileptics due to fructose\u20101,6\u2010biophosphatase deficiency caused by FBP1 gene mutation: Case report and review of literature","volume":"13","author":"Jian Z. 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