Genomics Solves a Mystery

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Until the mid-20th century, pentosuria — a benign condition identified by the presence of five carbon sugars in a person's urine — was often misdiagnosed as diabetes, causing many people to needlessly take insulin. A study published in PNAS in October by the University of Washington's Mary-Claire King, Arno Motulsky, Sarah Pierce, and their collaborators describes two mutations in DCXR that cause pentosuria. Genome Technology's Christie Rizk spoke with King about the study. What follows is an excerpt of their conversation, edited for space.

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