Essential pentosuria

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).

Summary from Reactome (R-HSA-5662853), read 2026-09-23.