" /> Essential fructosuria - CISMeF





Preferred Label : Essential fructosuria;

ICD-11 definition : Fructosuria is generally asymptomatic. It is caused by a deficiency in hepatic fructokinase, an enzyme involved in the catabolism of fructose. This anomaly leads to abnormally elevated levels of fructose in the blood after ingestion of fructose, sucrose or sorbitol. This excess fructose is then excreted in the urine. The mode of transmission is autosomal recessive.;

ICD-11 synonym : Ketohexokinase deficiency; hepatic fructokinase deficiency; Benign fructosaemia; essential fructosaemia; Fructokinase deficiency;

ICD-11 inclusion : fructosuria; essential benign fructosuria;

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Fructosuria is generally asymptomatic. It is caused by a deficiency in hepatic fructokinase, an enzyme involved in the catabolism of fructose. This anomaly leads to abnormally elevated levels of fructose in the blood after ingestion of fructose, sucrose or sorbitol. This excess fructose is then excreted in the urine. The mode of transmission is autosomal recessive.

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24/05/2025


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