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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors > Fructose Intolerance
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors > Fructose Intolerance

Preferred term

Fructose Intolerance  

Type

  • mesh:Descriptor

Definition

  • An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

Broader concept

Related concepts

Entry terms

  • ALDOB Deficiency
  • Aldolase B Deficiency
  • Fructose-1,6-Biphosphate Aldolase Deficiency
  • Fructose-1,6-Bisphosphate Aldolase B Deficiency
  • Fructose-1-Phosphate Aldolase Deficiency
  • Fructose Aldolase B Deficiency
  • Fructose Intolerance, Hereditary
  • Fructosemia
  • Hereditary Fructose Intolerance

Allowable Qualifier(s)

In other languages

  • Intolérance au fructose

    French

  • Déficit héréditaire en fructose-1-phosphate aldolase
  • Fructosémie congénitale
  • Intolérance héréditaire au fructose

URI

http://data.loterre.fr/ark:/67375/JVR-DTF9QP47-7

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