Results 21 to 30 of about 3,959 (161)

Unmasking Hereditary Fructose Intolerance: Turning a Rare Diagnosis Into a Path for Healing. [PDF]

Clin Case Rep
Early diagnosis of children with hereditary fructose intolerance, which can be achieved by proper history taking, thorough clinical examination, response to diet, and histopathological examination, followed by effective management with a lifelong ...
Shah RK, Khan SA, Aryal B, Khatiwada A, Gurubacharya B, Parajuli S.   +5 more
europepmc   +2 more sources

When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review. [PDF]

Case Rep Med
Introduction Hereditary fructose intolerance is a rare but potentially severe and fatal disorder if it is not recognized promptly. It is caused by biallelic mutations in the ALDOB gene, which encodes the Aldolase B enzyme.
Carrillo MH, Tamayo SV, Sandoval MV.
europepmc   +2 more sources

Activation of AMPD2 drives metabolic dysregulation and liver disease in mice with hereditary fructose intolerance. [PDF]

Commun Biol
Hereditary 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).
Andres-Hernando A, Orlicky DJ, Kuwabara M, Fini MA, Tolan DR, Johnson RJ, Lanaspa MA.   +6 more
europepmc   +2 more sources

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

Mol Metab
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.
Fulham MA, Griffin JD, Perez S, Sun Z, Daurio NA, Xing G, Clasquin MF, Miller MR, Hyde CL, Kelly SP, Boucher M, Poskanzer R, Gamini R, Pashos E, Zhang Y, Kuang E, Fienman J, Bence KK, Tesz GJ.   +18 more
europepmc   +2 more sources

Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance. [PDF]

Orphanet J Rare Dis
Background 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 ...
Izquierdo-García E, Lázaro-Cebas A, Montero Pastor B, Such Díaz A, Álvaro-Alonso EA, López Guerra L, Escobar-Rodríguez I.   +6 more
europepmc   +2 more sources

8676 Hereditary Fructose Intolerance Unmasked: Report of a Pediatric Case Exploring Differential Diagnosis of Hypoglycemia and Genetic Insights [PDF]

J Endocr Soc
Disclosure: N. Solano: None. D. Baboun: None. A. Granados: None. A. Carrillo-Iregui: None. Introduction: Hereditary fructose intolerance (HFI) is an uncommon autosomal recessive metabolic disorder characterized by a deficiency of aldolase B, a crucial ...
N. Solano, D. Baboun, Andrea Granados, A. Carrillo-Iregui   +3 more
europepmc   +2 more sources

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance [PDF]

Nutrients
Background/Objectives: Hereditary fructose intolerance (HFI) is an inherited metabolic disorder caused by a deficiency of the enzyme fructose-1,6-bisphosphate aldolase.
Izquierdo-García E, Mora E, García-Arenas D, Martínez Chicano D, López-García M, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Diego E, Bellusci M, Chumillas-Calzada S, Correcher P, Couce M, Cano A, Gómez I, Hernández T, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Arza A, Vitoria Miñana I, Delgado T, de las Heras J.   +27 more
europepmc   +2 more sources

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis ...
Alexandra Hurlock, Melissa Lah, Hannah S. Hyaduck, J. Molleston, Chaowapong Jarasvaraparn   +4 more
semanticscholar   +2 more sources

Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing. [PDF]

JPGN Rep, 2021
Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism due to deficiency of the enzyme aldolase B, preventing metabolism of fructose. Patients remain asymptomatic until exposed to fructose, sucrose, or sorbitol.
Lee J, Arenth J, Kasi N.
europepmc   +2 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