Hereditary Fructose Intolerance Diagnosed in Adulthood [PDF]
Gut and Liver, 2021 Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic
Min Soo Kim +5 more
doaj +5 more sources
Development of tools to facilitate the diagnosis of hereditary fructose intolerance [PDF]
JIMD Reports, 2023 Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of HFI.
Bianca Panis +5 more
doaj +4 more sources
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance [PDF]
Italian Journal of Pediatrics, 2012 We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy.
Paolella Giulia +6 more
doaj +5 more sources
Estimation of hereditary fructose intolerance prevalence in the Chinese population [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and ...
Meiling Tang +8 more
doaj +4 more sources
Fructose Intolerance: Cause or Cure of Chronic Functional Constipation [PDF]
Global Pediatric Health, 2018 Functional constipation is a common occurrence in the pediatric population. The link between fructose ingestion and constipation is obscure due to a lack of published data.
Mehek Mehta BS, Mirza Beg MD
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Hereditary fructose intolerance in Brazilian patients [PDF]
Molecular Genetics and Metabolism Reports, 2015 Introduction: Hereditary fructose intolerance (HFI) is a rare inborn error of carbohydrate metabolism, autosomal recessive, caused by mutations in the gene ALDOB, leading to deficiency of aldolase B.
Eugênia Ribeiro Valadares +7 more
doaj +4 more sources
Reply letter to “safety of SARS-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance” [PDF]
Human Vaccines & Immunotherapeutics, 2021 In the letter, Urro et al. performed a search on the sucrose, fructose and sorbitol content in the approved Sars-Cov-2 vaccines and they concluded that these vaccines can be safely administered in adults affected by Hereditary fructose intolerance.
Rebeca Saborido-Fiaño +4 more
doaj +2 more sources
Safety of vaccines administration in hereditary fructose intolerance [PDF]
Orphanet Journal of Rare Diseases, 2020 Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested overtime, for the risk of a life-threatening ...
Arianna Maiorana +3 more
doaj +2 more sources
Letter to the editor concerning the article ‘Safety of vaccines administration in hereditary fructose intolerance’ [PDF]
Human Vaccines & Immunotherapeutics, 2021 The most important approach for the management of hereditary fructose intolerance is a strict avoidance of fructose, sucrose and sorbitol from the diet and medications.
Rebeca Saborido-Fiaño +4 more
doaj +2 more sources
Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance [PDF]
DiseasesIntroduction: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene.
Félix Úbeda +2 more
doaj +2 more sources