Transcobalamin II deficiency

Common Name(s)

Transcobalamin II deficiency

Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by {9:Haberle et al., 2009}). {11:Hall (1981)} gave a clinically oriented review of congenital defects of vitamin B12 transport, and {8:Frater-Schroder (1983)} gave a genetically oriented review.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Transcobalamin II deficiency" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Transcobalamin II deficiency" returned 13 free, full-text research articles on human participants. First 3 results:

Transcobalamin II Deficiency in Four Cases with Novel Mutations.
 

Author(s): Şule Ünal, Tony Rupar, Sevgi Yetgin, Neşe Yaralı, Ali Dursun, Türkiz Gürsel, Mualla Çetin

Journal: Turk J Haematol. 2015 Dec;32(4):317-22.

 

Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion ...

Last Updated: 19 Jan 2016

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Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
 

Author(s): Sridharan Gururangan, Wendy Frankel, Russell Broaddus, Mark Clendenning, Leigha Senter, Marie McDonald, James Eastwood, David Reardon, James Vredenburgh, Jennifer Quinn, Henry S Friedman

Journal: Neuro-oncology. 2008 Feb;10(1):93-7.

 

We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation ...

Last Updated: 11 Feb 2008

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Influence of cobalamin deficiency compared with that of cobalamin absorption on serum holo-transcobalamin II.
 

Author(s): Xinke Chen, Angel F Remacha, M Pilar Sardà, Ralph Carmel

Journal: Am. J. Clin. Nutr.. 2005 Jan;81(1):110-4.

 

Cobalamin attached to transcobalamin II (TC II), known as holo-TC II, is the active cobalamin fraction taken up by tissues. Holo-TC II is also the form in which absorbed cobalamin enters the circulation from the ileum. Therefore, holo-TC II has been proposed variously as a marker ...

Last Updated: 10 Jan 2005

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Reviews from the PubMed Database

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The terms "Transcobalamin II deficiency" returned 0 free, full-text review articles on human participants.

 
 
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