Defective DCXR does not reduce L-xylulose to xylitol

Stable Identifier
R-HSA-5662851
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Mutations that inactivate DCXR block the conversion of L-xylulose to xylitol. The two mutant alleles that have been characterized by DNA sequencing would encode truncated mRNAs and encode no detectable protein product. One of these mutant alleles, DCXR c.583?C, is annotated here (Pierce et al. 2011; Wang & van Eys 1970).

Literature References
PubMed ID Title Journal Year
22042873 Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

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

Proc. Natl. Acad. Sci. U.S.A. 2011
4392213 The enzymatic defect in essential pentosuria

Wang, YM, Van Eys, J

N. Engl. J. Med. 1970
Participants
Participates
Catalyst Activity

L-xylulose reductase (NADP+) activity of DCXR H195Tfs*7 [plasma membrane]

Normal reaction
Functional status

Loss of function of DCXR H195Tfs*7 [plasma membrane]

Status
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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