Essential fructosuria

MONDO:0009252

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.

Also known as: fructokinase deficiency, fructosuria, essential, ketohexokinase deficiency, hepatic fructokinase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Essential fructosuria itself.

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↑ Disorder of galactose and fructose metabolism (4) ↑ Disorder of fructose metabolism (1)

Including sub-types (0) Tagged with Essential fructosuria (0)

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