Results 111 to 120 of about 1,705 (137)

Hereditary Fructose Intolerance

QJM: An International Journal of Medicine, 1988
Hereditary fructose intolerance (HFI) is an inborn error of carbohydrate metabolism that is inherited as an autosomal recessive condition. The disease is caused by a catalytic deficiency of aldolase B and is characterized by severe abdominal symptoms and hypoglycaemia which follow the ingestion of fructose, sucrose or sorbitol.
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Subcellular pathology of hereditary fructose intolerance

The American Journal of Medicine, 1968
Abstract Liver and jejunal biopsy specimens from a patient with hereditary fructose intolerance were examined by light and electron microscopy before and two hours after the ingestion of 50 gm. of fructose. By light microscopy there was no change in the histologic structure of the liver or intestine.
M J, Phillips, J A, Little, T W, Ptak
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The biochemical basis of hereditary fructose intolerance

Journal of Inherited Metabolic Disease, 2010
AbstractHereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and ...
Bouteldja, Nadia, Timson, David
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Pathogenesis of acidosis in hereditary fructose intolerance

Metabolism, 1979
An 18-yr-old man with a classical history of hereditary fructose intolerance (HFI) developed typical biochemical changes following an oral fructose load: fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis. Hypokalemia (3.1 meq/liter) was also noted.
R M, Richardson, J A, Little, R L, Patten, M B, Goldstein, M L, Halperin   +4 more
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[Hereditary fructose intolerance].

Acta medica portuguesa, 1999
Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients.
A I, Lopes, A G, Almeida, A E, Costa, A, Costa, M, Leite   +4 more
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Hereditary Fructose Intolerance in the Vomiting Infant

Pediatrics, 1990
Hereditary fructose intolerance is one of numerous entities included in the differential diagnosis of vomiting in infancy. Caused by a deficiency of fructose-1-aldolase, it is inherited as an autosomal recessive trait.1 The symptoms are often subtle and may be confused with more common disorders such as gastroesophageal reflux, milk protein allergy, or
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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance

Journal of Pediatric Endocrinology and Metabolism, 2021
Nevra Koc, , Serdar Ceylaner
exaly  

Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance

Clinical Nutrition, 2021
Luc Tappy, Kevin Seyssel, Christel Tran   +2 more
exaly  

Non-alcoholic fatty liver in hereditary fructose intolerance

Clinical Nutrition, 2020
Javier Adolfo De Las Heras Montero, Luis JOSÉ Aldamiz-Echevarria, Fernando Andrade   +2 more
exaly  

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Molecular Genetics and Metabolism, 2006
Rafał Płoski, Agnieszka Pollak, Ewa Pronicka   +2 more
exaly