Essential pentosuria: renal or enzymic disorder.

Abstract

ESSENTIAL pentosuria is a rare, recessive genetic metabolic disorder characterized by the excretion of gram quantities of L-xylulose. It was included among Garrod's “inborn errors of metabolism”1 and has usually been considered to be the result of an enzyme deficiency. Garrod's original concept of a hereditary metabolic anomaly has been broadened by some to include renal defects, and, in regard to essential pentosuria, Knox2 has recently stated, “the paramount question of a renal or an enzymic mechanism is still to be decided”.