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Article

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Human mutation - 1 Aug 2010

Quadros Edward V, Lai Shao-Chiang, Nakayama Yasumi, Sequeira Jeffrey M, Hannibal Luciana, Wang Sihe, Jacobsen Donald W, Fedosov Sergey, Wright Erica, Gallagher Renata C, Anastasio Natascia, Watkins David, Rosenblatt David S

Abstract excerpt

Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a homozygous single codon deletion, c.262_264GAG (p.E88del), resulting in the loss of a glutamic acid residue in the...

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Identifiers

PMID: 20524213
DOI: 10.1002/humu.21297
PMCID: PMC2909035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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