Human L-xylulose reductase variation: family and population studies.

  title={Human L-xylulose reductase variation: family and population studies.},
  author={Anthony B Lane and Trefor Jenkins},
  journal={Annals of human genetics},
  volume={49 3},
Only one of the two main L-xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). The isozyme which is affected by the pentosuria mutation occurs as mitochondrial and cytosolic forms in normal individuals, whereas the other isozyme (which is not affected by the mutation) occurs only in the cytosol. A new assay of red cell L-xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at… CONTINUE READING

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