133158 20260219090926.0 doi 10.3390/diseases12030044 sideral 137851 ART-2024-137851 eng Úbeda, Félix Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance 2024 Access copy available to the general public Unrestricted Introduction: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges. Aim: Our aim was to compile pertinent information on the differential diagnosis of this pathology based on patient symptoms, facilitating the development of a diagnostic algorithm for early identification. Methodology: A systematic review adhering to PRISMA guidelines was conducted on empirical studies from PubMed, encompassing a total of 35 studies. Results: Individuals with fructose intolerance may acutely experience postprandial symptoms such as hypoglycemia, vomiting, and abdominal distension. Despite proper treatment, chronic complications such as fatty liver, Fanconi syndrome, growth deficiency, and irritable bowel syndrome may arise. The proposed diagnostic algorithm aims to minimize these adverse processes. Conclusions: Understanding the pathogenesis enables prompt diagnosis and prevention of chronicity. Establishing continuity of care from pediatric to adult medicine is crucial, and disseminating information to non-pediatric endocrinologists is imperative for managing this rare disease. info:eu-repo/semantics/openAccess by https://creativecommons.org/licenses/by/4.0/deed.es 3.0 2024 0.851 2024 Medicine (miscellaneous) 2024 Q2 3.7 2024 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Santander, Sonia Universidad de Zaragoza (orcid)0000-0002-1275-2600 Luesma, María José Universidad de Zaragoza (orcid)0000-0003-4071-1467 1003 027 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Anatom.Embriol.Humana 1012 315 Universidad de Zaragoza Dpto. Farmac.Fisiol.y Med.L.F. Área Farmacología 12, 3 (2024), 44 [15 pp.] Diseases Diseases 2079-9721 1055723 http://zaguan.unizar.es/record/133158/files/texto_completo.pdf Versión publicada 2389591 http://zaguan.unizar.es/record/133158/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:133158 articulos driver 2026-02-19-08:59:57 ARTICLE