Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 1. |
Hayward BE et al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23. 
|
| 2. |
Steinmann B et al. (1981) The diagnosis of hereditary fructose intolerance.
|
| 3. |
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.
|
| 4. |
Bonthron DT et al. (1994) Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).
|
| 5. |
Orphanet article Orphanet ID 122829
|
| 6. |
NCBI article NCBI 3795
|
| 7. |
OMIM.ORG article Omim 614058
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
