ArticleProceedings of the National Academy of Sciences of the United States of America2016
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Peroxisomes in Liver Diseases: From Metabolite Quality Control to Inter-Organelle and Inter-Organ Signaling.Biomolecules · 2026Review
- Unveiling cholesterol metabolism-related gene ACOX2: a multi-omics discovery of a novel biomarker in IgA nephropathy.Hereditas · 2026Article
- Screening for Mutations Causing ACOX2 Deficiency-associated Hypertransaminasemia in Patients with Cryptogenic Liver Injury.Journal of clinical and translational hepatology · 2025Article
- Phytol enhances catalase-dependent ethanol metabolism in liver independent of PPARα.Free radical biology & medicine · 2025Article
- Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.Journal of inherited metabolic disease · 2025Review
- Peroxisome Dysfunction and Steatotic Liver Disease.International journal of molecular sciences · 2025Review
- NAC1/ACOX2 Axis as a Novel Therapeutic Target for Endometriosis-Related Ovarian Neoplasms.International journal of molecular sciences · 2025Article
- Impact ofTranslational gastroenterology and hepatology · 2025Article
- Liver as a nexus of daily metabolic cross talk.International review of cell and molecular biology · 2025Review
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.World journal of clinical pediatrics · 2024Review
- Genetic variants associated with response to anti-CGRP monoclonal antibody therapy in a chronic migraine Han Chinese population.The journal of headache and pain · 2024Article
- Cell-specific AHR-driven differential gene expression in the mouse liver cell following acute TCDD exposure.BMC genomics · 2024Article
- Article
- Protein crotonylation: Basic research and clinical diseases.Biochemistry and biophysics reports · 2024Review
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023Review
- Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.Journal of hepatology · 2023Review
- Nicotinamide N-methyltransferase and liver diseases.Genes & diseases · 2023Review
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
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 previously unidentified homozygous premature termination mutation (p.Y69*) in ACOX2 Immunohistochemistry confirmed the absence of ACOX2 expression in the patient's liver, and biochemical analysis showed marked elevation of intermediate bile acids upstream of ACOX2. These findings define a potentially treatable inborn error of bile acid biosynthesis caused by ACOX2 deficiency.
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