Details of Disease

General Information of Disease (ID: DISO0K23)

Disease Name Essential fructosuria
Synonyms hepatic fructokinase deficiency; ketohexokinase deficiency; fructosuria, essential; fructokinase deficiency
Definition
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
Disease Hierarchy
DISDS4G7: Disorder of galactose and fructose metabolism
DISAF3R7: Disorder of fructose metabolism
DISO0K23: Essential fructosuria
Disease Identifiers
MONDO ID
MONDO_0009252
MESH ID
C538068
UMLS CUI
C0268160
OMIM ID
229800
MedGen ID
78645
Orphanet ID
2056
SNOMED CT ID
124299001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KHK TTPAFR9 Limited Biomarker [1]
KHK TTPAFR9 Supportive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KHK OT153922 Supportive Autosomal recessive [2]
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References

1 A mathematical analysis of adaptations to the metabolic fate of fructose in essential fructosuria subjects.Am J Physiol Endocrinol Metab. 2018 Sep 1;315(3):E394-E403. doi: 10.1152/ajpendo.00317.2017. Epub 2018 Apr 17.
2 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum Mol Genet. 1994 Sep;3(9):1627-31. doi: 10.1093/hmg/3.9.1627.