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essential pentosuria


Definition: a benign heritable disorder in which the urinary output of l-xylulose is 1–4 g/24 hours; it occurs principally in Ashkenazi Jews; autosomal recessive inheritance.

Synonym(s): l-xylulosuria, primary pentosuria

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.