Human genes for essential fructosuria
Essential fructosuria [DOID:0111680]
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.
Synonyms: essential fructosuria, DOID:0111680, essential fructosurias, fructokinase deficiency, hepatic fructokinase deficiency ...