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Article

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Proceedings of the National Academy of Sciences of the United States of America - 4 Oct 2016

Vilarinho Sílvia, Sari Sinan, Mazzacuva Francesca, Bilgüvar Kaya, Esendagli-Yilmaz Güldal, Jain Dhanpat, Akyol Gülen, Dalgiç Buket, Günel Murat, Clayton Peter T, Lifton Richard P

Abstract excerpt

Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously. We report an 8-y-old male with intermittently elevated transaminase levels, liver fibrosis, mild ataxia, and cognitive impairment. Exome sequencing revealed a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27647924
DOI: 10.1073/pnas.1613228113
PMCID: PMC5056113

Genes

ACOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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