Home » Classic Medicine » Syndromes » fructosuria—essential



Definition A benign, asymptomatic defect (OMIM:229800) of intermediary metabolism characterised by the intermittent appearance of fructose in the urine.

Laboratory Ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose concentration and excretion of 10-20% of the ingested load in the urine.

Molecular pathology Defects of KHK, which encodes ketohexokinase, the enzyme that converts fructose to fructose-1-phosphate, cause fructosuria—essential. 

Synonyms Essential fructosuria, hepatic fructokinase deficiency, ketohexokinase deficiency


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