Dictionary > Fructose metabolism inborn errors

Fructose metabolism inborn errors

Fructose metabolism, inborn errors
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 hyperfructosaemia, but with no clinical dysfunction; may produce a false-positive diabetes test.

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