title: Studies on the molecular defect in galactosemia.
abstract: The galactose metabolic pathway and some of the consequences of deficient galactokinase or gal-1-P uridyltransferase activity have been discussed. The existence of CRM in transferase deficiency galactosemia is presented as evidence that this disease is the result of a structural gene mutation. The finding of both quantitative and qualitative variation in transferase CRM among different galactosemic patients argues that genetic heterogeneity exists within this group. Data supporting a Ping-Pong mechanism of action for human transferase reaction is proposed.
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D002384:Catalysis; D002478:Cells, Cultured; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D010770:Phosphotransferases / Q000378:metabolism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
chemical_list: D000255:Adenosine Triphosphate; D010770:Phosphotransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose