essential fructosuria

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:0111680
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3795 KHK ketohexokinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
16548 Khk ketohexokinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
25659 Khk ketohexokinase
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0010969 Abnormality of glycolipid metabolism
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0003074 Hyperglycemia
HP:0011033 Impairment of fructose metabolism
HP:0000007 Autosomal recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
3795 KHK ketohexokinase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024