Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Fructosuria is an autosomal recessive disorder caused by mutations of the KHK gene. It is characterized by intermittent renal excretion of fructose.
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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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None (1961) Essential benign fructosuria.
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None (1963) NONALIMENTARY FRUCTOSURIA.
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Orphanet article Orphanet ID 2056
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OMIM.ORG article Omim 229800
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Wikipedia article Wikipedia EN (Essential_fructosuria)
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