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Fructose Metabolism, Inborn Errors

MedGen UID:
8922
Concept ID:
C0016752
Disease or Syndrome

Definition

Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test. [from MeSH]

Term Hierarchy

Professional guidelines

PubMed

Sakuma I, Nagano H, Hashimoto N, Fujimoto M, Nakayama A, Fuchigami T, Taki Y, Matsuda T, Akamine H, Kono S, Kono T, Yokoyama M, Nishimura M, Yokote K, Ogasawara T, Fujii Y, Ogawa S, Lee E, Miki T, Tanaka T
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Recent clinical studies

Etiology

Johnston JA, Nelson DR, Bhatnagar P, Curtis SE, Chen Y, MacKrell JG
PLoS One 2021;16(2):e0247683. Epub 2021 Feb 23 doi: 10.1371/journal.pone.0247683. PMID: 33621267Free PMC Article
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
Michelakakis H, Moraitou M, Mavridou I, Dimitriou E
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Diagnosis

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Nutrients 2019 Dec 16;11(12) doi: 10.3390/nu11123063. PMID: 31888122Free PMC Article
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
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Therapy

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Nutrients 2017 Apr 3;9(4) doi: 10.3390/nu9040356. PMID: 28368361Free PMC Article
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Acta Paediatr 2012 Sep;101(9):e411-5. Epub 2012 May 24 doi: 10.1111/j.1651-2227.2012.02721.x. PMID: 22578243
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
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Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

Prognosis

Amieva-Balmori M, Coss-Adame E, Rao NS, Dávalos-Pantoja BM, Rao SSC
Dig Dis Sci 2020 May;65(5):1405-1413. Epub 2019 Oct 15 doi: 10.1007/s10620-019-05889-9. PMID: 31617133
Allen RJ, Musante CJ
Am J Physiol Endocrinol Metab 2018 Sep 1;315(3):E394-E403. Epub 2018 Apr 17 doi: 10.1152/ajpendo.00317.2017. PMID: 29664676
Mayatepek E, Hoffmann B, Meissner T
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. PMID: 20955963
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Clinical prediction guides

Johnston JA, Nelson DR, Bhatnagar P, Curtis SE, Chen Y, MacKrell JG
PLoS One 2021;16(2):e0247683. Epub 2021 Feb 23 doi: 10.1371/journal.pone.0247683. PMID: 33621267Free PMC Article
Amieva-Balmori M, Coss-Adame E, Rao NS, Dávalos-Pantoja BM, Rao SSC
Dig Dis Sci 2020 May;65(5):1405-1413. Epub 2019 Oct 15 doi: 10.1007/s10620-019-05889-9. PMID: 31617133
Allen RJ, Musante CJ
Am J Physiol Endocrinol Metab 2018 Sep 1;315(3):E394-E403. Epub 2018 Apr 17 doi: 10.1152/ajpendo.00317.2017. PMID: 29664676
Michelakakis H, Moraitou M, Mavridou I, Dimitriou E
Clin Chim Acta 2009 Mar;401(1-2):81-3. Epub 2008 Dec 3 doi: 10.1016/j.cca.2008.11.024. PMID: 19100247
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

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