Essential pentosuria

Stable Identifier
R-HSA-5662853
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Essential pentosuria
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Essential pentosuria, the excretion in the urine of high levels of L-xylulose, is a benign autosomal recessive trait found in Ashkenazi Jewish and Lebanese populations. It is due to mutations that inactivate DXCR (L-xylulose reductase) and thus prevent the conversion of L-xylulose to xylitol in the glucuronate pathway (Pierce et al. 2011; Wang & van Eys 1970).
Literature References
PubMed ID Title Journal Year
4392213 The enzymatic defect in essential pentosuria

Van Eys, J, Wang, YM

N. Engl. J. Med. 1970
22042873 Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

King, MC, Fokstuen, S, Lee, MK, Levy-Lahad, E, Motulsky, AG, Maccoss, MJ, Stray, SM, Bereman, MS, Spurrell, CH, Zeligson, S, Pierce, SB, Mandell, JB

Proc. Natl. Acad. Sci. U.S.A. 2011
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Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Authored
D'Eustachio, P  (2015-02-26)
Reviewed
Jassal, B  (2015-08-18)
Created
D'Eustachio, P  (2015-01-14)
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