Fructosuria

Fructosuria is a rare genetic condition that is characterized by the body's inability to fully metabolize the sugar fructose. This condition is caused by a deficiency of the enzyme fructokinase, which is responsible for the first step in the metabolism of fructose. As a result, fructose is excreted in the urine, hence the name fructosuria.

Causes

Fructosuria is caused by a deficiency of the enzyme fructokinase due to mutations in the KHK gene. This gene provides instructions for making fructokinase, which is responsible for the first step in the metabolism of fructose. When fructokinase is deficient, fructose cannot be broken down and is instead excreted in the urine.

Symptoms

The symptoms of fructosuria are generally mild and may include an excessive amount of fructose in the urine and blood. Some individuals may also experience abdominal pain, bloating, and diarrhea after consuming foods or drinks that contain fructose.

Diagnosis

Fructosuria is diagnosed through a urine test that measures the amount of fructose in the urine. A blood test may also be used to measure the amount of fructose in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the KHK gene.

Treatment

There is no specific treatment for fructosuria. Management of the condition involves avoiding foods and drinks that contain fructose. This can help to reduce the symptoms and prevent complications.

See also

• Fructose intolerance
• Fructose malabsorption
• Hereditary fructose intolerance
• Inborn errors of metabolism

References

Fructosuria Resources
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