{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T10:57:52Z","timestamp":1779101872409,"version":"3.51.4"},"reference-count":34,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. Consuming fructose triggers biochemical abnormalities, disrupting liver processes like glycogenolysis and gluconeogenesis. Recent studies have revealed elevated intrahepatic fat levels in affected individuals. Symptoms include aversion to fructose-containing foods, hypoglycemia, liver and kidney dysfunction, and growth delays, with severe cases leading to liver enlargement, fatty liver disease, kidney failure, and life-threatening hypoglycemia. In this case study, we present a 20-month-old child with symptoms including difficulty passing stool, abdominal rigidity, abdominal pain with bloating and hypoglycemia. Initial clinical findings revealed elevated liver enzymes, a mildly enlarged hyperechoic liver, hypercholesterolemia, and borderline alpha-fetoprotein values. Diagnostic assessments identified hereditary fructose intolerance (HFI) with pathogenic variants in the ALDOB gene, along with a diagnosis of celiac disease. Genetic testing of the parents revealed carrier status for pathological aldolase B genes. This case underscores the importance of comprehensive clinical evaluation and genetic testing in pediatric patients with complex metabolic presentations.<\/jats:p>","DOI":"10.3390\/jcm13123394","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T08:59:06Z","timestamp":1718009946000},"page":"3394","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7716-1481","authenticated-orcid":false,"given":"Leszek","family":"Garbowski","sequence":"first","affiliation":[{"name":"Public Independent Healthcare Services of the Ministry of Internal Affairs and Administration in Bia\u0142ystok, 15-471 Bia\u0142ystok, Poland"},{"name":"Department of Human Anatomy, Medical University of Bia\u0142ystok, 15-089 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8824-2148","authenticated-orcid":false,"given":"Marzena","family":"Walasek","sequence":"additional","affiliation":[{"name":"Public Independent Healthcare Services of the Ministry of Internal Affairs and Administration in Bia\u0142ystok, 15-471 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"Firszt","sequence":"additional","affiliation":[{"name":"Department of Ornamental Plants and Garden Art, Faculty of Biotechnology and Horticulture, University of Agriculture in Krakow, 31-425 Krak\u00f3w, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewelina","family":"Chili\u0144ska-Kopko","sequence":"additional","affiliation":[{"name":"Department of Human Anatomy, Medical University of Bia\u0142ystok, 15-089 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"B\u0142a\u017cejewska-Ga\u0142a","sequence":"additional","affiliation":[{"name":"Department of Human Anatomy, Medical University of Bia\u0142ystok, 15-089 Bia\u0142ystok, Poland"},{"name":"Department of Neonatology and Newborn Intensive Care, University Clinical Hospital in Bia\u0142ystok, 15-276 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Popielnicki","sequence":"additional","affiliation":[{"name":"Department of Human Anatomy, Medical University of Bia\u0142ystok, 15-089 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5139-2321","authenticated-orcid":false,"given":"Zofia","family":"Dzi\u0119cio\u0142-Anikiej","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, University Clinical Hospital in Bia\u0142ystok, 15-276 Bia\u0142ystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.5409\/wjcp.v11.i4.321","article-title":"Hereditary fructose intolerance: A comprehensive review","volume":"11","author":"Singh","year":"2022","journal-title":"World J. 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