{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:21:02Z","timestamp":1779250862622,"version":"3.51.4"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0303_abs_001_w2aab3b7c55b1b6b1aab1c15b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0303_abs_002_w2aab3b7c55b1b6b1aab1c15b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0303_abs_003_w2aab3b7c55b1b6b1aab1c15b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B (<jats:italic>ALDOB<\/jats:italic>) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1_15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a\u00a0heterozygous, homozygous, or compound heterozygous level.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0303_abs_004_w2aab3b7c55b1b6b1aab1c15b4Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0303","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:19:30Z","timestamp":1624493970000},"page":"1017-1022","source":"Crossref","is-referenced-by-count":6,"title":["Molecular and clinical findings of Turkish patients with hereditary fructose intolerance"],"prefix":"10.1515","volume":"34","author":[{"given":"Mehmet","family":"Gunduz","sequence":"first","affiliation":[{"name":"Ankara City Hospital, Department of Pediatric Metabolism , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"\u00dcnal-Uzun","sequence":"additional","affiliation":[{"name":"Kocaeli University, Department of Pediatric Metabolism , Kocaeli , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nevra","family":"Ko\u00e7","sequence":"additional","affiliation":[{"name":"University of Health Sciences, Gulhane Health Sciences Faculty, Department of Nutrition and Dietetics , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Genetics , \u0130ntergen Genetic Diseases Diagnostic Center , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eda","family":"\u00d6zayd\u0131n","sequence":"additional","affiliation":[{"name":"Ankara City Hospital, Department of Pediatrics , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara City Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,6,23]]},"reference":[{"key":"2023040101170331093_j_jpem-2021-0303_ref_001_w2aab3b7c55b1b6b1ab2b1b1Aa","unstructured":"Steinman, B, Santer, R. Disorders of fructose metabolism. In: Saudubray, JM, van den Berghe, G, Walter, JH, editors Inborn metabolic diseases, 5th ed. Heidelberg: Springer-Verlag Berlin; 2011."},{"key":"2023040101170331093_j_jpem-2021-0303_ref_002_w2aab3b7c55b1b6b1ab2b1b2Aa","unstructured":"Rake, JP, Visser, G, Smit, GPA. Disorders of carbohydrate and glycogen metabolism. In: Blau, N, Hoffmann, GF, Leonard, J, Clarke, JTR, editors. Physician\u2019s guide to the treatment and follow-up of metabolic diseases. Heidelberg: Springer; 2006."},{"key":"2023040101170331093_j_jpem-2021-0303_ref_003_w2aab3b7c55b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Mayatepek, E, Hoffmann, B, Meissner, T. Inborn errors of carbohydrate metabolism. 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