Version: 8.0.0
Date: Tue Jan 28 2025
essential fructosuria
DOID:0111680
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

essential fructosuria

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.
Synonyms
  • fructokinase deficiency
  • hepatic fructokinase deficiency
Cross References
Parent Terms
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None
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