| 概要 |
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.
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| 著者 |
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 |
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