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Essential fructosuria

rare

Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.

Causal genes
KHK
Also known as
fructokinase deficiency · fructosuria, essential · ketohexokinase deficiency

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