ISSN:
1432-1076
Keywords:
Acatalasia
;
Cerebro-hepato-renal syndrome
;
Cirrhosis
;
Hemochromatosis
;
Cytochrome abnormalities
;
Peroxisomes
;
Mitochondria
;
Oxidative phosphorylation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441934
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