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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

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Commun Biol 2023 Jul 28;6(1):787. doi: 10.1038/s42003-023-05160-y. PMID: 37507476Free PMC Article
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Kogut MD
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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

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
Cox TM
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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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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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