Essential fructosuria

Essential fructosuria is a rare, benign, inherited metabolic disorder characterized by the body's inability to process fructose and related sugars. It is caused by a deficiency of the enzyme fructokinase, which leads to an accumulation of fructose in the urine.

Causes

Essential 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 involved in the first step of breaking down fructose in the body's cells. When fructokinase is deficient, fructose cannot be broken down and instead accumulates in the urine.

Symptoms

The symptoms of essential fructosuria are generally mild and can include fructose intolerance, which can lead to abdominal pain, bloating, and diarrhea after consuming fructose. However, many individuals with essential fructosuria do not experience any symptoms.

Diagnosis

Essential fructosuria is diagnosed through a urine test that detects the presence of fructose. Genetic testing can also be used to identify mutations in the KHK gene.

Treatment

There is no specific treatment for essential fructosuria. Management of the condition involves avoiding foods and drinks that contain fructose.

See also

• Fructose intolerance
• Fructokinase
• KHK gene

References

Essential fructosuria Resources
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