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Article

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Molecular genetics and metabolism - 1 Jul 2016

Dewulf Joseph P, Barrea Catherine, Vincent Marie-Françoise, De Laet Corinne, Van Coster Rudy, Seneca Sara, Marie Sandrine, Nassogne Marie-Cécile

Abstract excerpt

Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase (ACAD) activity. ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders. ACAD9 mutation is suspected in cases of elevated lactic acid levels combined with complex I deficiency, and...

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Source

Identifiers

PMID: 27233227
DOI: 10.1016/j.ymgme.2016.05.005

Genes

ACAD9

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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