Term Name: essential fructosuria
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 )

Relationships
is a type of: autosomal recessive disease carbohydrate metabolic disorder