{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T14:38:13Z","timestamp":1794062293364,"version":"4.8.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002352","name":"Ain Shams University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002352","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Fructose 1, 6 bisphosphatase (FBPase) deficiency is a rare autosomal recessive disease caused by mutations in the\n                      <jats:italic>FBP1<\/jats:italic>\n                      gene. Symptoms of this disease are heterogeneous, with a variable age of onset, and are often confused with those of other inborn errors of metabolism. Biochemical testing is not conclusive, and patients usually need molecular testing for proper diagnosis and management.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim of study<\/jats:title>\n                    <jats:p>To describe clinical and molecular characteristics of patients with FBPase deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and methods<\/jats:title>\n                    <jats:p>The study included six female patients diagnosed with FBPase deficiency, all recruited from the outpatient genetics clinic and the Children\u2019s Hospital at Ain Shams University, Faculty of Medicine. The mean age at presentation was 22.8\u2009\u00b1\u200916.16 months, while the mean age at diagnosis was 62\u2009\u00b1\u200945.16 months, indicating an average diagnostic delay of three years. The most common presenting symptoms were vomiting, fever, and lethargy. Hepatomegaly was the most frequently observed clinical sign on examination. Initial laboratory investigations commonly revealed ketotic hypoglycemia and metabolic acidosis. Molecular testing confirmed the diagnosis in all cases. Encouragingly, with appropriate management, all patients achieved normal neurocognitive outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Fructose 1,6-bisphosphatase deficiency should be considered in children presenting with hypoglycemia and metabolic acidosis. Early molecular diagnosis is recommended to confirm the condition and to facilitate carrier screening and preventive strategies for at-risk family members.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04100-9","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T09:20:58Z","timestamp":1763630458000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants"],"prefix":"10.1186","volume":"20","author":[{"given":"Solaf M.","family":"Elsayed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radwa G.","family":"Mahmoud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9884-3684","authenticated-orcid":false,"given":"Yasmeen Abdelaziz","family":"Fereig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"4100_CR1","doi-asserted-by":"publisher","first-page":"3358","DOI":"10.1021\/BI00257A017","volume":"21","author":"JF Rahil","year":"1982","unstructured":"Rahil JF, de Maine MM, Benkovic SJ. Rapid-quench and isotope-trapping studies on fructose-1,6-bisphosphatase. Biochemistry. 1982;21:3358\u201363. https:\/\/doi.org\/10.1021\/BI00257A017.","journal-title":"Biochemistry"},{"key":"4100_CR2","doi-asserted-by":"publisher","first-page":"BSR20190124","DOI":"10.1042\/BSR20190124","volume":"39","author":"DJ Timson","year":"2019","unstructured":"Timson DJ. Fructose 1,6-bisphosphatase: getting the message across. Biosci Rep. 2019;39:BSR20190124. https:\/\/doi.org\/10.1042\/BSR20190124.","journal-title":"Biosci Rep"},{"key":"4100_CR3","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/J.EJMHG.2013.01.002","volume":"14","author":"RM Shawky","year":"2013","unstructured":"Shawky RM, Elsayed SM, Zaki ME, Nour El-Din SM, Kamal FM. Consanguinity and its relevance to clinical genetics. 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The FMASU REC is organized and operates in accordance with the guidelines of the International Council for Harmonization (ICH), the Islamic Organization for Medical Sciences (IOMS), the U.S. Office for Human Research Protections, and the U.S. Code of Federal Regulations. It functions under Federal Wide Assurance No. FWA:000017585. A copy of the informed consent has been attached.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent for participation"}},{"value":"Written informed consent, including consent for publication of anonymized data, was obtained from the legal guardians of all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"595"}}