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Fructosaemia (essential)

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Essential fructosaemia is an inherited deficiency of fructokinase.

The individual is unable to metabolize fructose.

Diagnosis is made on the increased concentration of fructose in plasma

  • is a harmless, asymptomatic disorder characterized by intermittent appearance of fructose in the urine (1)

Reference:

  1. Hou R, Panda C, Voruganti VS. Heterogeneity in Metabolic Responses to Dietary Fructose. Front Genet. 2019 Oct 31;10:945.

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