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Peroxisomal localization of the immunoreactiveβ-oxidation enzymes in a neonate with aβ-oxidation defect

Pathological observations in liver, adrenal cortex and kidney

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Summary

A boy born to healthy, unrelated parents, presented at birth with hypotonia and seizures. Very long chain fatty acids in the plasma were strongly elevated; bile acid intermediates and plasmalogen biosynthesis were normal. Acyl-CoA oxidase activity was normal. The patient died at the age of 3 months. The cerebellum and medulla oblongata showed neuronal migration defects. The specific biochemical basis for the impaired peroxisomalβ-oxidation has not been found. The three immunoreactive peroxisomalβ- oxidation enzymes and catalase were localized in the hepatocellular peroxisomes. Aberrant features of the peroxisomes included: a subpopulation of organelles larger than 1 Μm, an amorphous nucleoid in many organelles, and invaginations of the peroxisomal membrane into the matrix. Peroxisomes in the proximal renal tubules also contained the three immunoreactiveβ-oxidation enzymes. Regularly spaced trilamellar inclusions were seen in hepatic macrophages; they were much more abundant in adrenocortical macrophages. The inclusions were birefringent and resistant to acetone extraction. Distinct hepatic fibrosis had developed over a period of 2.5 months. We speculate that the impairedβ-oxidation is due to a defect at the level of the peroxisomal carnitine octanoyl or -acetyl transferase, responsible for the export ofβ-oxidation products.

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Authors and Affiliations

  1. Department of Human Anatomy and Embryology, Free University of Brussels, Laarbeeklaan 103, B-1090, Brussels, Belgium

    M. Espeel, F. Roels & D. De Craemer

  2. Institute of Pathological Morphology, Gerpinnes-Loverval, Belgium

    L. Van Maldergem

  3. Department of Pediatrics, State University of Ghent, Academic Hospital, Ghent, Belgium

    G. Dacremont

  4. Academisch Medisch Centrum, University of Amsterdam, Amsterdam, The Netherlands

    R. J. A. Wanders

  5. Department of Biochemistry, Shinshu University School of Medicine, Nagano, Japan

    T. Hashimoto

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  1. M. Espeel
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  2. F. Roels
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  4. D. De Craemer
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  6. R. J. A. Wanders
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  7. T. Hashimoto
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Espeel, M., Roels, F., Van Maldergem, L. et al. Peroxisomal localization of the immunoreactiveβ-oxidation enzymes in a neonate with aβ-oxidation defect. Vichows Archiv A Pathol Anat 419, 301–308 (1991). https://doi.org/10.1007/BF01606521

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  • DOI: https://doi.org/10.1007/BF01606521

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