Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report [PDF]
Pediatric Reports, 2021 Celiac disease (CD) has been associated with several genetic and autoimmune disorders, but its association with hereditary fructose intolerance (HFI) is very rare.
Anna Bobrus-Chociej +5 more
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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
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Reply letter to the editor concerning the article ‘Safety of Sars-Cov-2 vaccines administration for adult patients with hereditary fructose intolerance’ [PDF]
Human Vaccines & Immunotherapeutics, 2022 According to the current European medicines legislation, on the labeling is mandatory a warning contraindicating for hereditary fructose intolerance (HFI) patients medicines with oral or parenteral fructose and sorbitol, and oral sucrose, invert sugar ...
Elsa Izquierdo-Garcia +4 more
doaj +2 more sources
Kidney and vascular function in adult patients with hereditary fructose intolerance [PDF]
Molecular Genetics and Metabolism Reports, 2020 Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet.
Nynke Simons +11 more
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Hereditary fructose intolerance: A comprehensive review. [PDF]
World J Clin Pediatr, 2022 Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects.
Singh SK, Sarma MS.
europepmc +3 more sources
Hereditary Fructose Intolerance
Zdorovʹe Rebenka, 2014 Hereditary fructose intolerance, the prevalence of which is 1 : 20,000 population, is diagnosed much less frequently than is found in child and adult populations.
N.V. Nagornaya +3 more
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Adult hereditary fructose intolerance. [PDF]
World J Gastroenterol, 2009 Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion ...
Yasawy MI +3 more
europepmc +3 more sources
Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance [PDF]
Communications BiologyHereditary fructose intolerance (HFI) is a painful and potentially lethal genetic disease caused by a mutation in aldolase B resulting in accumulation of fructose-1-phosphate (F1P).
Ana Andres-Hernando +6 more
doaj +2 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
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Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance [PDF]
Orphanet Journal of Rare DiseasesBackground Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse excipient tolerability in patients with HFI and other related diseases and to design mobile and website ...
Elsa Izquierdo-García +6 more
doaj +2 more sources