Peroxisomal Localization of the Immunoreactive Beta-oxidation Enzymes in a Neonate With a Beta-oxidation Defect - Pathological Observations in Liver, Adrenal-cortex and Kidney

Espeel, M.;Roels, F.;Vanmaldergem, L.;Decraemer, D.;Hashimoto, T.;et.al.
(1991) Virchows Archiv. Section A: Pathological Anatomy and Histopathology — Vol. 419, n° 4, p. 301-308 (1991)

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Authors
  • Espeel, M.
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  • Roels, F.
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  • Vanmaldergem, L.
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  • Decraemer, D.
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  • Hashimoto, T.
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Abstract
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 peroxisomal beta-oxidation has not been found. The three immunoreactive peroxisomal beta-oxidation enzymes and catalase were localized in the hepatocellular peroxisomes. Aberrant features of the peroxisomes included: a subpopulation of organelles larger than 1-mu-m, 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 immunoreactive beta-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 impaired beta-oxidation is due to a defect at the level of the peroxisomal carnitine octanoyl or -acetyl transferase, responsible for the export of beta-oxidation products.
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Espeel, M., Roels, F., Vanmaldergem, L., Decraemer, D., Dacremont, G., Wanders, RJA., & Hashimoto, T. (1991). Peroxisomal Localization of the Immunoreactive Beta-oxidation Enzymes in a Neonate With a Beta-oxidation Defect - Pathological Observations in Liver, Adrenal-cortex and Kidney. Virchows Archiv. Section A: Pathological Anatomy and Histopathology, 419(4), 301-308. https://doi.org/10.1007/BF01606521 (Original work published 1991)