Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
Abstract
Peroxisomal acyl-coenzyme A (acyl-CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (SCOX). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Although some case reports and small series of patients have been published, a comprehensive overview of the clinical, biochemical, and mutational spectrum of this disorder is still lacking. For this reason, we report clinical information for a cohort of 22 patients with peroxisomal acyl-CoA oxidase deficiency and the results from biochemical and mutation analyses in fibroblasts of the patients. No clear genotype-phenotype correlation was observed. An intriguing mutation in the alternatively-spliced transcript encoding the isoform SCOX-exon 3II in a patient with normal expression of the transcript encoding the isoform SCOX-exon 3I, prompted us to characterize these two isoforms of human SCOX. The recombinant SCOX-exon 3I displayed activity toward medium-chain fatty acyl-CoAs and was not active with very long-chain fatty acyl-CoAs. In contrast, recombinant SCOX-exon 3II was capable of oxidizing a broad range of substrates, including very long-chain fatty acyl-CoAs. These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts.
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Children with ACOX1 deficiency suffer devastating neonatal CNS disease, with VLCFA accumulation and early death.
“In contrast, children with ACOX1 deficiency suffer devastating neonatal CNS disease, with VLCFA accumulation and early death [269], and dACOX1 mutant Drosophila have glial and axonal loss [270].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [269]
PEDs directly affecting β-oxidation, such as ACOX1 and MFP2/BP deficiencies, present with neonatal onset and typically lead to death within the first few years of life.
“In contrast, PEDs directly affecting β-oxidation (Figure 1)—such as ACOX1 and MFP2/BP deficiencies—present with neonatal onset and typically lead to death within the first few years of life (Huyghe et al., 2006; Ferdinandusse et al., 2007).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Ferdinandusse et al., 2007
The clinical presentation of acyl-CoA oxidase deficiency resembles Zellweger spectrum disorders, notably neonatal adrenoleukodystrophy.
“Still, in many respects, the clinical presentation of acyl-CoA oxidase deficiency (formerly pseudoneonatal adrenoleukodystrophy) resembles Zellweger spectrum disorders, notably neonatal adrenoleukodystrophy [79].”
From Peroxisomes in brain development and function (2016) · cites this paper as [79]
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- Authors
- Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Kennedy Krieger Institute (US)
- Corresponding author
- Ferdinandusse, Sacha
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2007
- Volume
- 28
- Issue
- 9
- Pages
- 904-912
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2072066566
- Cited by
- 156
- References
- 30
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 16 · 2023: 12 · 2022: 8 · 2021: 14 · 2020: 12 · 2019: 6 · 2018: 7 · 2017: 6 · 2016: 7 · 2015: 8 · 2014: 10 · 2013: 6 · 2012: 9
- FWCI
- 3.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- ACOX1, very long chain fatty acids, peroxisomal fatty acid oxidation, genotype-phenotype correlation, recombinant enzyme activity
- MeSH terms
- Amino Acid Sequence, Cells, Cultured, DNA Mutational Analysis, Fatty Acids, Fibroblasts, Genotype, Humans, Isoenzymes, Lipid Metabolism, Inborn Errors, Molecular Sequence Data, Mutation, Oxidoreductases, Phenotype, Cohort Studies, Biomarkers, Sequence Homology, Amino Acid, Peroxisomal Disorders, Acyl-CoA Oxidase
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