Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
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.
D002478:Cells, Cultured; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000378:metabolism*; D005695:Galactosephosphates / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans; D009713:Nucleotidyltransferases / Q000172:deficiency*; D013431:Sulfates / Q000378:metabolism*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency*
D005695:Galactosephosphates; D013431:Sulfates; D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005947:Glucose; D005690:Galactose