Transcobalamin II Deficiency with Methylmalonic Aciduria in Three Sisters

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1999 Oct 13

PMID 10518276

Citations 5

Authors

H Bibi

Z Gelman-Kohan

E R Baumgartner

D S Rosenblatt

Affiliations

Soon will be listed here.

Abstract

Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied by neurological abnormalities. Inadequate treatment may lead to neurological abnormalities. We describe three sisters, the daughters of first cousins of Moroccan origin, with TC II deficiency requiring continuous and long-term vitamin B12 treatment. The diagnosis was suspected from the finding of low unsaturated vitamin B12 binding capacity and confirmed by absence of detectable TC II by radioimmunoassay and by inability of cultured fibroblasts to synthesize TC II.

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