Abstract
IT has recently been reported that two patients who had the characteristic syndrome of congenital galactosæmia as infants, and who lack gal-1-P uridyl transferase in their red blood cells, are nevertheless able to oxidize galactose-1-14C to 14CO2 in vivo in a near-normal fashion1. It is therefore apparent that some tissues within these individuals must be capable of metabolizing galactose. Further studies on one of these subjects (T. B.), a 30-year-old Negro who was the first case of galactosæmia reported in the American literature2, have inquired into possible tissue differences with respect to the presence or absence of the metabolic derangement typical of galactosæmia.
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TOPPER, Y., LASTER, L. & SEGAL, S. Galactose Metabolism : Phenotypic Differences among Tissues of a Patient with Congenital Galactosæmia. Nature 196, 1006 (1962). https://doi.org/10.1038/1961006a0
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DOI: https://doi.org/10.1038/1961006a0
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