Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin
HC Zeitlin, K Sheppard, JD Baum, FG Bolton and CA Hall
A case of transcobalamin II (TCII) deficiency in which a total absence of
TCII was demonstrated both functionally and immunologically is reported.
Unlike previously described patients, this child has been maintained on
oral hydroxocobalamin, 2 mg daily, without any parenteral supplementation
for the last five years. At the age of six years her development is normal
and her health is good. Plasma cobalamin levels are in the range of 3,000
ng/L and most of this appears to be bound to a molecule, which on gel
filtration, elutes with albumin. In an extended family study, a clear
separation of heterozygotes from both the propositus and from normal
subjects suggests that the underlying defect in this condition is confined
to a single gene.
Volume 66,
Issue 5,
pp. 1022-1027,
11/01/1985
Copyright © 1985 by The American Society of Hematology
