Premium
Atypical cobalamin binding in the serum of congenital deficiency of transcobalamin II
Author(s) -
Hall Charles A.,
Begley James A.
Publication year - 1982
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1982.tb07290.x
Subject(s) - cobalamin , endogeny , in vivo , chemistry , medicine , endocrinology , in vitro , biochemistry , biology , vitamin b12 , genetics
The serum cobalamin (Cb1) binding patterns were described in nine children with congenital deficiency of transcobalamin II (TC II). Immunoreactive TC II was < 100 pg/ml TC II‐Cb1 equivalent in eight and 150 pg/ml in the ninth. There was neither endogenous TC II‐Cb1 (holo TC II) nor apo TC II. Thus, the defect was characterized by the absence of any binding of Cb1 to TC II either in vivo or in vitro and either non‐detectable or much reduced immunoreactive TC II. Only the serum from an untreated infant bound any added Cb1 at all, but in every sera there was binding of endogenous Cb1 to a substance of the molecular size of albumin. Native Cb1 was also bound to R binder and in some instances was incorporated into large complexes. The precise nature, cause and consequences of this atypical binding are unknown.