essential fructosuria
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.
MONDO:0017689
disorder of fructose metabolism
is_a
MONDO:0800152
disorder of galactose and fructose metabolism
is_a
fructokinase deficiency
exact
fructosuria, essential
exact
ketohexokinase deficiency
exact