Abstract:
: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, elevation of total plasma homocysteine, and blood or urine methylmalonic acid. It is confirmed by studying the synthesis of TC in cultured fibroblasts, or by molecular analysis of the TCN2 gene. TC deficiency is treatable with supplemental cobalamin, but the optimal type, route and frequency of cobalamin administration and long term patient outcomes are unknown. Here we present a series of 30 patients with TC deficiency, including an update on multiple previously published patients, in order to evaluate the different treatment strategies and provide information about long term outcome. Based on the data presented, current practice appears to favour treatment of individuals with TC deficiency by intramuscular injections of hydroxy- or cyanocobalamin. In most cases presented, at least weekly injections (1 mg IM) were necessary to ensure optimal treatment. Most centres adjusted the treatment regimen based on monitoring CBC, total plasma homocysteine, plasma and urine methylmalonic acid, as well as, clinical status. Finally, continuing IM treatment into adulthood appears to be beneficial.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Trakadis YJ,Alfares A,Bodamer OA,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 MC,Varet Bdoi
10.1007/s10545-013-9664-5subject
Has Abstractpub_date
2014-05-01 00:00:00pages
461-73issue
3eissn
0141-8955issn
1573-2665journal_volume
37pub_type
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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