FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term essential fructosuria ID (Ontology) DOID:0111680 (Human Disease)
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.
Also Known As "fructokinase deficiency" ; "hepatic fructokinase deficiency" ; "ketohexokinase deficiency"
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 Genes
 essential fructosuria       4
 for disease ribbon | essential fructosuria       4
 model of | essential fructosuria       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
inherited metabolic disorder         |
 |__carbohydrate metabolic disorder__|
                                     essential fructosuria  4 rec.
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Is a autosomal recessive disease
carbohydrate metabolic disorder
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Synonyms
  • "fructokinase deficiency" EXACT
    "hepatic fructokinase deficiency" EXACT
    "ketohexokinase deficiency" EXACT
Secondary IDs
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ICD10CM:E74.11
MEDDRA:10015487
MESH:C538068
MIM:229800
ORDO:2056
SNOMEDCT_US_2023_03_01:124300009
UMLS_CUI:C0268160