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Article

Should transcobalamin deficiency be treated aggressively?

Journal of inherited metabolic disease - 1 Jun 2010

Schiff Manuel, Ogier de Baulny Hélène, Bard Ghislaine, Barlogis Vincent, Hamel Christian, Moat Stuart J, Odent Sylvie, Shortland Graham, Touati Guy, Giraudier Stéphane

Abstract excerpt

Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine depletion. The clinical presentation reflects intracellular Cbl defects, with early-onset failure to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20352340
DOI: 10.1007/s10545-010-9074-x

Genes

TCN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".Semantic proximity Read ↗

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.Semantic proximity Read ↗

Long-term Outcome of a Patient With Transcobalamin Deficiency Caused by the Homozygous c.1115_1116delCA Mutation in TCN2 Gene: a Case ReportSemantic proximity Read ↗

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