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Ketohexokinase (fructokinase)

the KHK genes encodes ketohexokinase that catalyzes the first step of metabolism of dietary fructose. Defects result in hight blood levels of fructose, so fructose appears in urine.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:




Hayward BE et al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.

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Steinmann B et al. (1981) The diagnosis of hereditary fructose intolerance.

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Boesiger P et al. (1994) Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy.

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Bonthron DT et al. (1994) Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).

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Orphanet article

Orphanet ID 122829 external link

NCBI article

NCBI 3795 external link

OMIM.ORG article

Omim 614058 external link
Update: Aug. 14, 2020
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