Results 11 to 20 of about 3,517 (179)

Impaired hepatic metabolism in Hereditary Fructose Intolerance confers fructose-independent risk for steatosis and hypertriglyceridemia [PDF]

Molecular Metabolism
Objectives: Hereditary fructose intolerance (HFI), caused by Aldolase B deficiency, is a rare genetic disorder where fructose exposure leads to severe metabolic pathologies including Type-2 diabetes and liver steatosis.
Melissa A. Fulham, John D. Griffin, Sylvie Perez, Zhongyuan Sun, Natalie A. Daurio, Gang Xing, Michelle F. Clasquin, Melissa R. Miller, Craig L. Hyde, Scott P. Kelly, Magalie Boucher, Rachel Poskanzer, Ramya Gamini, Evanthia Pashos, Ying Zhang, Elaine Kuang, Josh Fienman, Kendra K. Bence, Gregory J. Tesz   +18 more
doaj   +2 more sources

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, Agnieszka Pollak, Natalia Kopiczko, Marta Flisiak-Jackiewicz, Rafał Płoski, Dariusz M. Lebensztejn   +5 more
doaj   +2 more sources

Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance [PDF]

Diseases
Introduction: 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, Sonia Santander, María José Luesma   +2 more
doaj   +2 more sources

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, Elena Alba Alvaro Alonso, Berta Montero Pastor, Ana Such Díaz, Ismael Escobar Rodríguez   +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, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers   +11 more
doaj   +2 more sources

Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en niños pequeños [PDF]

Anales de Pediatría, 2018
Resumen: Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentación clínica,
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto   +6 more
doaj   +2 more sources

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, Ye.V. Bordyugova, А.P. Dudchak, А.P. Koval   +3 more
doaj   +4 more sources

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance. [PDF]

J Clin Med, 2021
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J.   +21 more
europepmc   +4 more sources

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, Folsch UR, Schmidt WE, Schwend M.   +3 more
europepmc   +3 more sources