Essential fructosuria

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Essential Fructosuria

Essential fructosuria (pronunciation: eh-sen-shul fruk-toh-sur-ee-uh) is a rare and benign genetic disorder that affects the metabolism of fructose. It is caused by a deficiency in the enzyme fructokinase, which is responsible for the first step of fructose metabolism.

Etymology

The term "essential fructosuria" is derived from the Latin word "essentia" meaning "being", and the Greek words "fruktos" meaning "fruit", and "ouron" meaning "urine". This refers to the presence of fructose in the urine, which is a key characteristic of this condition.

Symptoms and Diagnosis

Essential fructosuria is typically asymptomatic, meaning that individuals with this condition usually do not show any symptoms. It is often discovered incidentally during routine urine tests when fructose is detected.

Treatment

There is no specific treatment required for essential fructosuria. Since the condition is benign, it does not cause any health problems. However, individuals with this condition are advised to limit their intake of fructose to reduce the amount of fructose in their urine.

Related Terms

  • Fructose: A type of sugar found in many fruits and vegetables, as well as honey and certain types of sugar cane.
  • Fructokinase: An enzyme that is responsible for the first step of fructose metabolism.
  • Genetic disorder: A disease that is caused by changes, or mutations, in an individual's DNA.

See Also

  • Hereditary Fructose Intolerance: A more severe genetic disorder that also affects fructose metabolism, but unlike essential fructosuria, it can cause serious health problems if not managed properly.

External links

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