Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders
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Since very long-chain fatty acids with a chain length of 24 carbons or more are known to accumulate in tissues and body fluids from patients with the cerebrohepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and X-linked adrenoleukodystrophy, we studied very long-chain fatty acid oxidation in cultured skin fibroblasts from these patients. In this paper, we report that in accordance with earlier results the first step in the beta-oxidation of the very long-chain fatty acid lignoceric acid (C24:0) primarily occurs in peroxisomes in control human skin fibroblasts. Furthermore, it was found that peroxisomal lignoceric acid beta-oxidation was strongly deficient in fibroblasts from patients with Zellweger syndrome, infantile Refsum disease, neonatal and X-linked adrenoleukodystrophy, which explains for the accumulation of very long-chain fatty acids in all four disease entities. In Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy the impairment in peroxisomal very long-chain fatty acid beta-oxidation is probably caused by a strong deficiency of all peroxisomal beta-oxidation enzyme proteins due to a deficiency of peroxisomes.
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Pathogenic variants in ABCD1 cause adrenoleukodystrophy by causing deficient beta-oxidation of saturated very-long-chain fatty acids.
“It is caused by pathogenic variants in ABCD1 causing deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs).2-4”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [4]
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Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Schutgens, R. B. H., van den BOSCH, H., Schram, A. W., & Tager, J. M. (1988) · Springer eBooks · doi:10.1007/978-1-4613-1029-7_49 · Cited by 2 · see citing works
Self-citationMeasurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts
Wanders, R. J. A., Denis, S. W., Ruiter, J. P. N., Schutgens, R. B. H., van Roermund, C. W. T., & Jacobs, B. S. (1995) · Springer eBooks · doi:10.1007/978-94-011-9635-2_10 · Cited by 1 · see citing works
Self-citationHuman Cytomegalovirus Regulates Host Lipid Metabolism
Xi, Y. (2021) · UA Campus Repository (The University of Arizona) · Cited by 1 · see citing works
Baarine, M. (2010) · theses.fr (ABES) · doi:10.70675/7ab2bcc8z16d2z420cz92f9zb3fd52371382 · Cited by 1 · see citing works
Stoffwechselerkrankungen der Leber
Preisegger, K., & Denk, H. (2000) · Spezielle pathologische Anatomie · doi:10.1007/978-3-642-57036-0_5
Peroxisomes and Peroxisomal Disorders
van der Knaap, M. S., & Valk, J. (1995) · Springer eBooks · doi:10.1007/978-3-662-03078-3_14
Prenatal and Perinatal Diagnosis of Peroxisomal Disorders
Schutgens, R. B. H., Wanders, R. J. A., Heymans, H. S. A., Schrakamp, G., van den BOSCH, H., & Tager, J. M. (1989) · Springer eBooks · doi:10.1007/978-94-009-1069-0_11
Self-citationHeins-Marroquin, U., Hodzic, Z., da Silva, B. S. C., Hendriks, A., Gavotto, F., Warmoes, M. O., Schlicker, L., Omri, S., Jäger, C., Glaab, E., et al. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1634536
Holley, S., Asmussen, G., Lam, B., Zhao, Z., Freed, B., Guo, L., Dostalova, Z., Tang, B., Kothe, M., Lang, P., et al. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.113103
Zellweger Cerebrohepatorenal Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease
van der Knaap, M. S., & Valk, J. (1995) · Springer eBooks · doi:10.1007/978-3-662-03078-3_15
- Authors
- Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., Moser, H. W., & Moser, A. B.
- Affiliations
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
- Corresponding author
- Wanders, R.J.A.
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 1987-07
- Volume
- 166
- Issue
- 2-3
- Pages
- 255-263
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W2021711628
- Cited by
- 58
- References
- 35
- Citations by year
- 2026: 1 · 2025: 2 · 2022: 1 · 2021: 2 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 1 · 2013: 1
- FWCI
- 7.72
- Type
- journal article
- Language
- en
- Open access
- green
- dspace.library.uu.nl
- Licence
- Locations
- Clinica Chimica Acta (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Funders
- Cerebra
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, X-linked adrenoleukodystrophy, peroxisomal disorders, dermal fibroblasts, lignoceric acid, peroxisomal enzyme deficiency, peroxisome deficiency
- MeSH terms
- Adrenoleukodystrophy, Adult, Brain Diseases, Cells, Cultured, Fatty Acids, Female, Fibroblasts, Humans, Kidney Diseases, Lipid Metabolism, Inborn Errors, Liver Diseases, Microbodies, Oxidation-Reduction, Refsum Disease, Skin, Syndrome
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