Congenital deficiency of human R-type binding proteins of cobalamin.
A family expressing the congenital absence of the R-type binders of cobalamin (Cbl), vitamin B-12, was restudied. The capacity to bind Cbl to R type binders was absent from serum, saliva, cerebrospinal fluid, gastric juice granulocytes, and granulocyte output of the propositus. Serum R did not carry Cbl in vivo. There was no immunological R binder in his saliva, but cross reacting material was detected in his serum. Evidence of a partial expression of the defect was observed in offspring of two affected persons. There were no obvious clinical consequences of the defect.
D001798:Blood Proteins / Q000172:deficiency*; D002352:Carrier Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011863:Radioimmunoassay; D012463:Saliva / Q000378:metabolism; D012867:Skin / Q000378:metabolism; D014155:Transcobalamins / Q000172:deficiency* / Q000235:genetics; D014805:Vitamin B 12 / Q000378:metabolism*
D001798:Blood Proteins; D002352:Carrier Proteins; D014155:Transcobalamins; D014805:Vitamin B 12