Essential fructosuria

Stable Identifier
R-HSA-5657562
Type
Pathway
Species
Homo sapiens
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Deficiencies in KHK (ketohexokinase) are associated with essential fructosuria (Bonthron et al. 1994).

Literature References
PubMed ID Title Journal Year
7833921 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

Bonthron, DT, Brady, N, Donaldson, IA, Steinmann, B

Hum Mol Genet 1994
Participants
Participates
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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