Summary
Identification of a patient as suffering from a peroxisomal disorder usually starts by the finding of elevated very long-chain fatty acids in plasma and/or serum. This is followed by more detailed studies in blood, fibroblasts and tissues, including immunoblot analysis. Indeed, immunoblot analysis has become a valuable tool in the correct diagnosis and assignment of individual patients, except for X-linked adrenoleukodystrophy (X-ALD). We describe a simple immunoblotting procedure applicable to liver and fibroblast homo-genates using antibodies raised against catalase and the three β-oxidation enzyme proteins acyl-CoA oxidase I, bifunctional protein and peroxisomal thiolase. The same procedure can also be used for chorionic villus biopsy specimens and has now become the method of choice for the prenatal diagnosis of Zellweger syndrome (and other disorders of peroxisome biogenesis) and rhizomelic chondrodysplasia punctata.
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Wanders, R.J.A., Dekker, C., Ofman, R. et al. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients. J Inherit Metab Dis 18 (Suppl 1), 101–112 (1995). https://doi.org/10.1007/BF00711433
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DOI: https://doi.org/10.1007/BF00711433