Abstract
The report of absent peroxisomes and distorted mitochondria in liver and kidney of Zellweger syndrome suggested that the manifestations may be secondary to disturbed function of these organelles. The associated question of persistence of peroxisomal enzyme activity in the absence of peroxisomes was equally provocative.
Liver and intestinal biopsies from a patient with Zellweger syndrome were assayed for 3 peroxisomal enzymes. Catalase was present in both tissues in normal concentrations but was not sedimentable at 10,000 rpm for 30 min. Cyanide-insensitive β -oxidation of palmitoyl-CoA and dihydroxyacetone phosphate acyltransferase were not detectable in liver. Absence of the former could explain the reported accumulations of very long-chain fatty acids. The acyltransferase is essential in the synthesis of plasmalogens which are widely distributed in membranes but whose functions are poorly understood.
Peroxisomes could not be found in liver or intestine by EM. Mitochondria were normal. Rare, very small bodies were noted in intestine some of which were DAB-positive (catalase-containing).
These findings provide the first unequivocal evidence of a deficiency in peroxisomal enzymes in human disease. Zellweger syndrome may result from an interruption in peroxisomal formation.
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Lazaro, P., Black, V., Hajra, A. et al. BIOCHEMICAL AND MORPHOLOGICAL PEROXISOMAL DEFECTS IN ZELLWEGER SYNDROME. Pediatr Res 18 (Suppl 4), 223 (1984). https://doi.org/10.1203/00006450-198404001-00779
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DOI: https://doi.org/10.1203/00006450-198404001-00779