essential fructosuria (DOID:0111680)
Alliance: disease page
Synonyms: fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency
Alt IDs: OMIM:229800, ICD10CM:E74.11, MESH:C538068, ORDO:2056, UMLS_CUI:C0268160
Definition: 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.