Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
Identical twin-sisters with evidence of a demyelinating disease showed multiple serum glycoprotein abnormalities. The association of a low serum iron level and a normal blood haemoglobin suggested an abnormality of transferrin too. This was confirmed by finding a sialic acid-deficiency of this glycoprotein in serum as well as in cerebrospinal fluid.
D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics / Q000378:metabolism*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D019158:N-Acetylneuraminic Acid; D011247:Pregnancy; D012794:Sialic Acids / Q000097:blood / Q000134:cerebrospinal fluid*; D014168:Transferrin / Q000134:cerebrospinal fluid*; D014430:Twins, Monozygotic
D012794:Sialic Acids; D014168:Transferrin; D019158:N-Acetylneuraminic Acid