Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency, is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine (-uria denotes "in the urine"). It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. Inheritance is autosomal recessive.
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- Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency, is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine (-uria denotes "in the urine"). It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. Inheritance is autosomal recessive. Essential fructosuria should not be confused with fructosemia, which denotes fructose in the blood (also known as hereditary fructose intolerance). Fructosemia is a very serious condition, as fructose is converted into fructose-1-phosphate, using up ATP and building up fructose-1-phosphate in the blood. This prevents proper release of glucose from glycogen, uses up free phosphate, and causes a rise in uric acid, leading to growth abnormalities and, in severe cases, coma.
- Fructosurie is een toestand waarbij zich fructose in de urine bevindt. Dit is het gevolg van een tekort aan het leverenzym fructokinase. Dit is een erfelijke aandoening. Het is niet ernstig of gevaarlijk. Het moet niet worden verward met fructosemie, wat wel een ernstige aandoening is.
- Эссенциальная фруктозурия — редкий, рецессивно наследуемый дефект углеводного обмена. Заболевание связано с недостаточным синтезом фруктокиназы в печени и других тканях. Другая тяжёлая форма фруктозурии обусловлена недостаточным образованием фруктозо-1-фосфатальдолазы и снижением синтеза фруктозо-1,6-дифосфатальдолазы.
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- Essential fructosuria, also known as hepatic fructokinase deficiency or ketohexokinase deficiency, is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine (-uria denotes "in the urine"). It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. Inheritance is autosomal recessive.
- Fructosurie is een toestand waarbij zich fructose in de urine bevindt. Dit is het gevolg van een tekort aan het leverenzym fructokinase. Dit is een erfelijke aandoening. Het is niet ernstig of gevaarlijk. Het moet niet worden verward met fructosemie, wat wel een ernstige aandoening is.
- Эссенциальная фруктозурия — редкий, рецессивно наследуемый дефект углеводного обмена. Заболевание связано с недостаточным синтезом фруктокиназы в печени и других тканях.
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- Essential fructosuria
- Fructosurie
- Эссенциальная фруктозурия
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