Transcobalamin II deficiency and oral cobalamin therapy [letter]

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Mild transcobalamin I (haptocorrin) deficiency and low serum cobalamin concentrations.

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Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin.

A case of transcobalamin II (TCII) deficiency in which a total absence of TCII was demonstrated both functionally and immunologically is reported. Unlike previously described patients, this child has been maintained on oral hydroxocobalamin, 2 mg daily, without any parenteral supplementation for the last five years. At the age of six years her development is normal and her health is good. Plasm...

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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...

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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...

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Effective treatment of cobalamin deficiency with oral cobalamin.

Because cobalamin deficiency is routinely treated with parenteral cobalamin, we investigated the efficacy of oral therapy. We randomly assigned 38 newly diagnosed cobalamin deficient patients to receive cyanocobalamin as either 1 mg intramuscularly on days 1, 3, 7, 10, 14, 21, 30, 60, and 90 or 2 mg orally on a daily basis for 120 days. Therapeutic effectiveness was evaluated by measuring hemat...

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ژورنال

عنوان ژورنال: Blood

سال: 1986

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v67.5.1522.bloodjournal6751522