: MeSH: Fructose Metabolism, Inborn Errors

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors

Fructose Metabolism, Inborn Errors

Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.

http://data.loterre.fr/ark:/67375/JVR-Z4D60SRC-B

RDF/XML TURTLE JSON-LD Date de création 31/05/1988, dernière modification le 05/07/2006

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