Essential fructosuria
ICD-10 Code
E74.11
Essential fructosuria
Definition
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 — per MONDO