Transport of therapeutic cyanocobalamin in the congenital deficiency of transcobalamin II (TC II)

Transport of therapeutic cyanocobalamin in the congenital deficiency of transcobalamin II (TC II).

Cobalamin (Cbl) transport was studied in the circulation of a child deficient in transcobalamin II (TC II) after 1.0 mg of cyanocobalamin (CN-Cbl) either intramuscularly or orally. Pertinent observations include the following: (1) There was no detectable TC II in the serum as measured immunologically or by binding capacities in vivo or in vitro. (2) Transcobalamin I (TC I) was present in at lea...

Neurological involvement in hereditary transcobalamin II deficiency.

A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the lim...

Congenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin

A case of transcobalamin II deficiency with several unique features is described. The clinical presentation was typical. except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/mI). Several cobalaminbinding protein abnormalities coexisted and antedated cobal...

Congenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin

A case of transcobalamin II deficiency with several unique features is described. The clinical presentation was typical. except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/mI). Several cobalaminbinding protein abnormalities coexisted and antedated cobal...

Studies on transcobalamin (TC). 1. Detection of TC II isoproteins in human serum.