Abstract
Abstract The enzyme defect in pentosuria has been assumed to be NADP-linked xylitol dehydrogenase, a specific enzyme found in mammalian livers. In the red blood cells of three homozygous pentosuric subjects, the activity of NADP-linked xylitol dehydrogenase was found to be subnormal. The enzyme has a Michaelis-constant value for NADP that is 10 to 20 times higher than that found in normal persons. In a heterozygous subject, two activities, one normal, one abnormal, appeared to exist. This study confirms by direct biochemical means the site of the metabolic defect in pentosuria.
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