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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 external link
7.

OMIM.ORG article

Omim 229800 external link
8.

Wikipedia article

Wikipedia EN (Essential_fructosuria) external link
Update: Aug. 14, 2020
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