Term Name: | essential fructosuria |
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Synonyms: | fructokinase deficiency, hepatic fructokinase deficiency, ketohexokinase deficiency |
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. |
Ontology: | Human Disease [DOID:0111680] ( DOID:0111680 ) |