Essential fructosuria
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ICD9 = | ICDO = | OMIM = 229800 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = |Essential fructosuria, also known as hereditary fructosuria, is the condition caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine (-uria means in the urine). It is essentially a benign condition, as fructose cannot be broken down at all, so it is simply excreted in the urine. It 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.
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