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Article

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Human molecular genetics - 15 Mar 2012

Stucki Martin, Coelho David, Suormala Terttu, Burda Patricie, Fowler Brian, Baumgartner Matthias R

Abstract excerpt

The cblD defect of intracellular vitamin B(12) metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC). We studied the mechanism whereby MMADHC mutations can lead to three phenotypes. The effect of various expression vectors containing MMADHC modified to contain an enhanced mitochondrial leader sequence or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22156578
DOI: 10.1093/hmg/ddr579

Genes

MMADHC

Provenance

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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