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Article

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

European journal of human genetics : EJHG - 1 Nov 2017

Riemersma Moniek, Hazebroek Mark R, Helderman-van den Enden Appolonia T J M, Salomons Gajja S, Ferdinandusse Sacha, Brouwers Martijn C G J, van der Ploeg Liesbeth, Heymans Stephane, Glatz Jan F C, van den Wijngaard Arthur, Krapels Ingrid P C, Bierau Jörgen, Brunner Han G

Abstract excerpt

Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can also cause adult-onset DCM is currently unknown. Therefore, we performed an extensive metabolic screening in 36...

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Identifiers

PMID: 28853722
DOI: 10.1038/ejhg.2017.127
PMCID: PMC5643962

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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