ISSN:
1432-1076
Keywords:
Transcobalamin II deficiency
;
Macrocytic anaemia
;
Failure to thrive
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01955004
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