essential fructosuria

A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.

Signs and symptoms

• Elevated urine fructose level
• Impairment of fructose metabolism

Also known as: fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency