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Article

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.

European journal of pediatrics - 1 Dec 2014

Gündüz Mehmet, Ekici Filiz, Özaydın Eda, Ceylaner Serdar, Perez Belen

Abstract excerpt

UNLABELLED: Methylmalonic aciduria and homocystinuria, cobalamin C (CblC) disease (OMIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism and is caused by an inability of the cell to convert Cbl to its active forms (MeCbl and AdoCbl). More than 75 mutations hav...

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Source

Identifiers

PMID: 24853097
DOI: 10.1007/s00431-014-2330-6

Genes

MMACHC
PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24853097-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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