Mild Transcobalamin I (Haptocorrin) Deficiency and Low Serum Cobalamin Concentrations
نویسندگان
چکیده
منابع مشابه
Mild transcobalamin I (haptocorrin) deficiency and low serum cobalamin concentrations.
BACKGROUND Low cobalamin concentrations are common, but their causes are often unknown. Transcobalamin I/haptocorrin (TC I/HC) deficiency, viewed as a rare cause, has not been examined systematically in patients with unexplained low serum cobalamin. METHODS Total TC I/HC was measured by RIA in three subgroups of 367, 160, and 38 patients with different categories of low cobalamin concentratio...
متن کاملGenomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels.
Transcobalamin (TC) I deficiency, like the function of TC I itself, is incompletely understood. It produces low serum cobalamin levels indistinguishable from those of true cobalamin deficiency. Diagnosis is especially elusive when TC I deficiency is mild. To provide new, more substantive definition, the TCN1 gene was examined in two well-characterised families that included members with both se...
متن کاملCongenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin
A case of transcobalamin II deficiency with several unique features is described. The clinical presentation was typical. except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/mI). Several cobalaminbinding protein abnormalities coexisted and antedated cobal...
متن کاملCongenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin
A case of transcobalamin II deficiency with several unique features is described. The clinical presentation was typical. except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/mI). Several cobalaminbinding protein abnormalities coexisted and antedated cobal...
متن کاملThe cobalamin-binding proteins transcobalamin and haptocorrin in maternal and cord blood sera at birth.
BACKGROUND Two proteins carry vitamin B12 in plasma. Transcobalamin (TC) carries approximately 25% of total plasma vitamin B12 and is 6% to 20% saturated with cobalamin. Haptocorrin (HC) binds approximately 80% of total cobalamin and is largely saturated with cobalamin. METHODS We investigated the distribution and the relationship between concentrations of cobalamin, total and holo forms of T...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2003
ISSN: 0009-9147,1530-8561
DOI: 10.1373/49.8.1367