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

Preferred term

Fructose Metabolism, Inborn Errors  

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  • Topical Descriptor

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Scope note

  • 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.

History note

  • 89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)

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URI

http://www.yso.fi/onto/mesh/D015318

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