Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.
Red blood cell lysates from normal individuals, a homozygous Duarte variant, and a patient with transferase-deficiency galactosemia were challenged with rabbit antibody to pure human placental galactose-1-phosphate uridylyltransferase. Although the antibody quantitatively precipitated the enzymatically active proteins in the normal and Duarte hemolysates, the Duarte sample absorbed only about one-half as much antibody as did the normal. In contrast, the antibody did not react with the galactosemic hemolysate.
D000328:Adult; D000818:Animals; D000906:Antibodies / Q000302:isolation & purification; D004912:Erythrocytes / Q000201:enzymology*; D005693:Galactosemias / Q000201:enzymology*; D006801:Humans; D007120:Immunochemistry; D007163:Immunosorbent Techniques; D008297:Male; D011817:Rabbits; D014166:Transferases / Q000097:blood / Q000172:deficiency*
D000906:Antibodies; D014166:Transferases