Rennes-like variant of galactosemia: clinical and biochemical studies.
The first recognized case of a Rennes-like variant form of galactosemia in a Caucasian individual is described. Galactose-1-phosphate uridyl transferase activity was approximately 10% of the normal in both erythrocytes and cultured skin fibroblasts. Electrophoretic mobility of the variant enzyme in erythrocytes was slower than that of normal individuals and identical to that of the two cases originally reported from Rennes, France. In normal cultured skin fibroblasts, four transferase bands were found. In this tissue, the patient again had a slower moving transferase. It is proposed that in transferase variants an altered subunit results in a specifically altered enzyme mobility analogous for each tissue.
D000328:Adult; D004796:Clinical Enzyme Tests; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005690:Galactose / Q000652:urine; D005693:Galactosemias / Q000145:classification / Q000201:enzymology* / Q000235:genetics; D005796:Genes; D014644:Genetic Variation; D006461:Hemolysis; D006801:Humans; D007223:Infant; D008297:Male; D009713:Nucleotidyltransferases / Q000097:blood*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood* / Q000172:deficiency; D014532:Uridine Diphosphate Glucose / Q000097:blood*; D014539:Uridine Diphosphate Sugars / Q000097:blood*; D044465:White People
D014539:Uridine Diphosphate Sugars; D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D014532:Uridine Diphosphate Glucose; D005690:Galactose