Definitions

Essential fructosuria

Essential fructosuria

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.

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