Transcobalamin II deficiency: case report and review of the literature.
Kaikov Y, Wadsworth LD, Hall CA, Rogers PC.
Department of Paediatrics, University of British Columbia, British Columbia Children's Hospital, Vancouver, Canada.
A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.
« Back to abstracts
|
News
Coming Soon ! The full video recording of the Euromedlab 2007 Active B12 workshop will be available in the next few weeks, register for your copy.
Live CME Web Conference on vitamin B12 deficiency, Prof. Ralph Green, Dec 13th 2007, register now.
read more »
Meetings
8-11 December, 2007
American Society of Hematology, Atlanta, booth 544
read more »
|