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Essential Fructosuria

(Essential) espresso fruit toast

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Essential fructosuria is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme fructokinase, which catalyzes the degradation of fructose to fructose-1-phosphate in the liver. Unlike other defects in fructose metabolism, this deficiency causes a clinically benign condition characterized by incomplete metabolism of fructose and excretion of fructose in the urine without excess fructose entering cells. A diagnosis of essential fructosuria is typically made after a positive test for reducing substances in the urine. Because the disease is clinically benign, no treatment is indicated.

6 KEY FACTS

This disorder is inherited in an autosomal recessive pattern.

Essential fructosuria is caused by a deficiency of the enzyme fructokinase which catalyzes the reaction fructose to fructose-1-phosphate.

Fructokinase is the first enzyme involved in the degradation of fructose to fructose-1-phosphate.

Unlike other defects in fructose metabolism, essential fructosuria causes a clinically benign condition.

Although fructose accumulates in blood and urine, it cannot enter cells and therefore causes a clinically benign condition. Fructose is excreted through the urine, causing a positive test for reducing substances.

Although fructose accumulates in blood and urine, it cannot enter cells and therefore causes a clinically benign condition.

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