essential fructosuria
Definition: a benign, asymptomatic inborn error of metabolism due to deficiency of fructokinase, the first enzyme in the specific fructose pathway; fructose appears in the blood and urine, but is simply excreted unchanged; autosomal recessive inheritance. A fructokinase deficiency.
Synonym(s): benign fructosuria, fructokinase deficiency
See Also: hereditary fructose intolerance
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