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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
essential fructosuria
- fructokinase deficiency
- hepatic fructokinase deficiency
- ketohexokinase deficiency
disease_ontology
DOID:0111680