Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fructosuria

Fructosuria is an autosomal recessive disorder caused by mutations of the KHK gene. It is characterized by intermittent renal excretion of fructose.

Systematic

Monosacchariduria
Fructosuria
KHK
Glucose-Galactose Malabsorption
Renal Glucosuria

References:

1.

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

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2.

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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3.

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

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4.

None (1961) Essential benign fructosuria.

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5.

None (1963) NONALIMENTARY FRUCTOSURIA.

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6.

Orphanet article

Orphanet ID 2056 [^]
7.

OMIM.ORG article

Omim 229800 [^]
8.

Wikipedia article

Wikipedia EN (Essential_fructosuria) [^]
Update: April 29, 2019