{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:56:44Z","timestamp":1782147404185,"version":"3.54.5"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0732_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by <jats:italic>FBP1<\/jats:italic>, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with recurrent episodes of metabolic acidosis, hypoglycemia, hypertriglyceridemia, and hyperketonemia are present.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0732_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this study, we describe the clinical, biochemical, and molecular genetic features of six unrelated Turkish patients from six different families who were\u00a0genetically diagnosed with FBPase deficiency in our\u00a0clinic between 2008 and 2020. Their clinical and laboratory data were collected retrospectively. Next-generation sequencing (NGS) was performed for the molecular genetic analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0732_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All patients were hospitalized with recurrent hypoglycemia and metabolic acidosis episodes. Three out of six patients were presented in the neonatal period. The mean age at diagnosis was 26\u00a0months. NGS revealed a known homozygous gross deletion including exon 2 in three patients (50%), a known homozygous c.910_911dupTT pathogenic variant in one patient (16%), a novel homozygous c.651_653delCAGinsTAA likely pathogenic variant, and another novel homozygous c.705+5G&gt;A splice site variant. Leukocyte FBPase analysis detected no enzyme activity in the patient with homozygous c.705+5G&gt;A splice site variant.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0732_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We identified two novel mutations in this study. One of them is a splice site mutation which is five bases downstream of the exon, and the other one is an indel mutation. Both of the splice site and indel mutations are exceedingly rare in <jats:italic>FBP1<\/jats:italic>, and to the best of our knowledge, there are second splice site and indel variants reported in the literature. Exon 2 deletion is the most common mutation consistent with the previous reports in Turkish patients. FBPase is a frequent cause of hypoglycemia and metabolic acidosis, and the widespread use of molecular genetic analysis would contribute to the enlightenment of advanced genetic factors and possible genotype\/phenotype correlation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0732","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T05:28:25Z","timestamp":1645162105000},"page":"497-503","source":"Crossref","is-referenced-by-count":9,"title":["Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in <i>FBP1<\/i>"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1561-7949","authenticated-orcid":false,"given":"Merve","family":"Emecen Sanli","sequence":"first","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basak","family":"Cengiz","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekin","family":"Ozsaydi","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0561-2060","authenticated-orcid":false,"given":"Asli","family":"Inci","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilyas","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Tumer","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Lebigot","sequence":"additional","affiliation":[{"name":"Bic\u00eatre Hospital , AP-HP, Biochemistry Department , 94275 Le Kremlin-Bic\u00eatre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism , Gazi University School of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,2,18]]},"reference":[{"key":"2023033123535389203_j_jpem-2021-0732_ref_001","doi-asserted-by":"crossref","unstructured":"Baker, L, Winegrad, AI. 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