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”.
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BOZIAN, R., TOUSTER, O. Essential Pentosuria: Renal or Enzymic Disorder. Nature 184, 463–464 (1959). https://doi.org/10.1038/184463a0
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DOI: https://doi.org/10.1038/184463a0
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