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Essential fructosuria
rareEssential 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.
- Identifiers
- MONDO:0009252 OMIM:229800Orphanet:2056
- Causal genes
- KHK
- Also known as
- fructokinase deficiency · fructosuria, essential · ketohexokinase deficiency
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