Science, Vol 205, Issue 4413, 1395-1397
Copyright © 1979 by American Association for the Advancement of Science
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency
TA Tedesco
and
KL Miller
Cultures of nonmutant as well as galactokinase-deficient fibroblasts incorporate 20 percent more [35S]sulfate when galactose is substituted for glucose in the medium; galactose-1-phosphate uridyltransferase-deficient cells incorporate 65.5 percent less. In addition to incorporating less [35S]sulfate, the uridyltransferase-deficient cells showed significant accumulation of intracellular galactose-1-phosphate within 4 hours after galactose exposure. Under the same conditions, no difference in [3H]uridine incorporation was observed. This metabolic alteration, occurring in response to galactose exposure, may be related to the pathophysiology of classical galactosemia.
