Article
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Journal of inherited metabolic disease - 1 May 2014
Trakadis Y J, Alfares A, Bodamer O A, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan M C, Varet B, Venditti C P, Zafeiriou D, Rupar C A, Rosenblatt D S, Watkins D, Braverman N
Abstract excerpt
Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined immunodeficiency disease. Diagnosis of TC deficiency is suspected based on megaloblastic anemia,...
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