Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins.
The serum glycoproteins in three patients with the carbohydrate-deficient glycoprotein (CDG) syndrome were examined using isoelectric focusing in polyacrylamide gels, SDS-PAGE, and a two-dimensional electrophoretic technique. Increases in isoforms with higher isoelectric points (pI's) were observed in all asparagine-N-linked glycoproteins tested. Abnormal components of transferrin, antithrombin III and orosomucoid had smaller molecular weights, about 3000 and 6000 Da, than normal ones. Antithrombin III gave an increased cathodal band. Its pI and molecular weight were the same as those of a physiological variant of antithrombin III (beta fraction), which is known to lack the asparagine-N-linked oligosaccharide chain at asparagine-135. The evidence suggests that a deficiency of asparagine-N-linked oligosaccharide transfer occurs in multiple serum glycoproteins in patients with CDG syndrome. Thus, examination of serum by isoelectric focusing in polyacrylamide gels and SDS-PAGE should be very useful for differentiating the CDG syndrome type I from clinical and biochemical variants.
Yuasa
I
I
Department of Legal Medicine, Tottori University, Yonago, Japan.
Ohno
K
K
Hashimoto
K
K
Iijima
K
K
Yamashita
K
K
Takeshita
K
K
D000990:Antithrombin III / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D006023:Glycoproteins / Q000097:blood*; D006801:Humans; D009844:Oligosaccharides / Q000032:analysis; D009961:Orosomucoid / Q000032:analysis; D013577:Syndrome; D014168:Transferrin / Q000032:analysis
D006023:Glycoproteins; D009844:Oligosaccharides; D009961:Orosomucoid; D014168:Transferrin; D000990:Antithrombin III