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A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

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Abstract

A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one patient with ZS [2], contained smooth endoplasmic reticulum. No catalase was found by histochemistry or spectroscopy. Mitochondria showed normal succinate and glutamate respiration, and normal coupling of respiration to the phosphorylation potential. The cytochrome (cyt) content was diminished to one-third with an abnormally inversed redox patterns of the respiratory chain in the controlled state, cyt b being 5%, cyt c 23% reduced. The oxygen affinity of cyt a 3 was normal. These findings exclude a defect in the nonheme iron protein region of the respiratory chain as described in ZS [2], but point to a functional abnormality of cyt b in our patient.

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Authors and Affiliations

  1. Division of Neonatology, University Children's Hospital, D-8000, München 2, Germany

    H. T. Versmold

  2. University Children's Hospital III, Moorenstr. 5, D-4000, Düsseldorf 1, Germany

    H. J. Bremer, H. v. Voss & Ingrid Lombeck

  3. Dept. of Cell Biology, University of Munich, D-8000, München 2, Germany

    V. Herzog

  4. Institute of Physiology, Free University of Berlin, D-1000, Berlin 33

    G. Siegel

  5. Institute of Pathology, University of Münster, D-4400, Münster, Germany

    D. B. v. Bassewitz

  6. Prof. Hess-Children's Hospital, D-2800, Bremen, Germany

    U. Irle

  7. Institute of Physiological Chemistry and Physical Biochemistry, University of Munich, D-8000, München 2, Germany

    B. Brauser

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  1. H. T. Versmold
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  3. V. Herzog
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  5. D. B. v. Bassewitz
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  8. Ingrid Lombeck
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  9. B. Brauser
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Additional information

Supported by Deutsche Forschungsgemeinschaft, SFB 51, “Medizinische Moleukularbiologie und Biochemie” (H.T.V., V.H., B.B.), Sci 182/1-4 (G.S.), and by the Landesamt für Forschung des Landes Nordrhein-Westfalen (H.J.B.)

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Versmold, H.T., Bremer, H.J., Herzog, V. et al. A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis. Eur J Pediatr 124, 261–275 (1977). https://doi.org/10.1007/BF00441934

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  • DOI: https://doi.org/10.1007/BF00441934

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