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Pathway Description
Fructosuria
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-13
Fructosuria, full name essential fructosuria, is a condition that presents no symptoms and is benign. Patients with this condition exhibit a mutation in the KHK gene, which leads to fructose metabolism not being completed. This is because of a lack of the enzyme fructokinase, found in the liver. It is identified by the presence of fructose in the urine, which in people without the condition should not be present.
References
Fructosuria References
[Metagen: FRUCTOSURIA](http://metagene.de/program/d.prg?id_d=130)
[OMIM: 229800](http://omim.org/entry/229800})
[Fructosuria](http://en.wikipedia.org/wiki/Fructosuria)
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Pubmed: 4875257
Miller CO, Yang X, Lu K, Cao J, Herath K, Rosahl TW, Askew R, Pavlovic G, Zhou G, Li C, Akiyama TE: Ketohexokinase knockout mice, a model for essential fructosuria, exhibit altered fructose metabolism and are protected from diet-induced metabolic defects. Am J Physiol Endocrinol Metab. 2018 Sep 1;315(3):E386-E393. doi: 10.1152/ajpendo.00027.2018. Epub 2018 Jun 5.
Pubmed: 29870677
Fructose and Mannose Degradation References
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Pubmed: 24931670
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Pubmed: 15164054
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Pubmed: 10980531
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Pubmed: 8307007
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Pubmed: 14702039
Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics. 1997 Feb 15;40(1):41-7. doi: 10.1006/geno.1996.4536.
Pubmed: 9070917
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Levanon D, Danciger E, Dafni N, Bernstein Y, Elson A, Moens W, Brandeis M, Groner Y: The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK. DNA. 1989 Dec;8(10):733-43. doi: 10.1089/dna.1989.8.733.
Pubmed: 2533063
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Pubmed: 10830953
el-Maghrabi MR, Lange AJ, Jiang W, Yamagata K, Stoffel M, Takeda J, Fernald AA, Le Beau MM, Bell GI, Baker L, et al.: Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics. 1995 Jun 10;27(3):520-5.
Pubmed: 7558035
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Pubmed: 2842796
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Pubmed: 8387495
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