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Article

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

European journal of pediatrics - 1 Jul 2014

Laemmle Alexander, Balmer Christian, Doell Carsten, Sass Jörn Oliver, Häberle Johannes, Baumgartner Matthias R

Abstract excerpt

UNLABELLED: Propionic acidemia (PA) is a rare autosomal recessive organic aciduria resulting from defects in propionyl-CoA-carboxylase (PCC), a key enzyme of intermediate energy metabolism. PA mostly manifests during the neonatal period, when affected newborns develop severe metabolic acidosis an...

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Source

Identifiers

PMID: 24916042
DOI: 10.1007/s00431-014-2359-6

Genes

PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24916042-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.PMID 24916042Read ↗

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.Semantic proximity Read ↗

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