Terminology Service for NFDI4Health

essential fructosuria

Go to external page http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

essential fructosuria

Synonyms
  • fructokinase deficiency
  • hepatic fructokinase deficiency
  • ketohexokinase deficiency
database cross reference
has obo namespace

disease_ontology

id

DOID:0111680