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peroxisomal acyl-CoA oxidase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisomal acyl-CoA oxidase deficiency

MONDO:0009919

Also known as:ACOX1 deficiencyPseudoadrenoleukodystrophyperoxisomal acyl-coenzyme A oxidase

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Overview

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

GeneticsAutosomal recessive · ACOX1 (chr 17)

Clinical Trials2 registered · 1 recruiting

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Low muscle tone (hypotonia), Reduced circulating acyl-CoA oxidase activity, Severe intellectual disability, and Loss of previously acquired skills (developmental regression) and others; and common findings: Epicanthus, Seizure, Hypertelorism, and Difficulty swallowing (dysphagia) and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACOX1 encodes acyl-CoA oxidase 1 (660 aa). Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long-chain fatty acids. Highest expression in Liver (37.3 TPM) and Skin Sun Exposed Lower leg (29.8 TPM).

Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene on chromosome 17.

The ACOX1 protein participates in Expression of ACOX1 and ACOX1 oxidizes C26:0 CoA pathways.

ACOX1 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

88 pathogenic variants reported in ACOX1 in ClinVar.

Diagnosis

Genetic testing for ACOX1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for peroxisomal acyl-CoA oxidase deficiency. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).

Recent Publications

Turan İ (2026). [PMID: 41797577](https://pubmed.ncbi.nlm.nih.gov/41797577/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]
Tanaka T (2025). [PMID: 38767473](https://pubmed.ncbi.nlm.nih.gov/38767473/). *Neural regeneration research*. [Epidemiology / Natural History]
Vaz FM (2025). [PMID: 38693715](https://pubmed.ncbi.nlm.nih.gov/38693715/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Helvacioglu D (2025). [PMID: 40326779](https://pubmed.ncbi.nlm.nih.gov/40326779/). *European journal of endocrinology*. [Case Report / Case Series]

Data assembled from 9 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:264470

Orphanet

European rare disease database

Orphanet:2971

GARD

Genetic and Rare Diseases Info Center

GARD:4543

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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peroxisomal acyl-CoA oxidase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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