Pentosuria
Definition:
Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically benign. Mutations have been identified in the DCXR gene encoding L-xylulose reductase, which are predicted to lead to loss of enzyme activity. In pentosuria, failure to convert L-xylulose to xylitol leads to accumulation of L-xylulose.
Références:
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[1]. A B Lane, et al. Human L-xylulose reductase variation: family and population studies. Ann Hum Genet. 1985 Jul;49(3):227-35. [Content Brief]
[2]. Sarah B Pierce, et al. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. [Content Brief]
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