Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.
Diagnostic and pathogenetic investigations of peroxisomal disorders should include the study of the macroscopic and microscopic pathology of the liver, in addition to careful clinical observations, skeletal X-ray and brain CT scan, assays of very long-chain fatty acids and bile acid intermediates, and selected enzyme activities. This review of the literature also contains novel observations about the following syndromes: cerebro-hepato-renal (Zellweger) syndrome, X-linked and neonatal adrenoleukodystrophies (ALD, NALD), NALD-like syndromes, infantile phytanic acid storage, classical Refsum disease, rhizomelic and other forms of chondrodysplasia punctata (XD, XR, AR), hyperpipecolic acidaemia, primary hyperoxaluria I, pseudo-Zellweger and Zellweger-like syndromes, and single enzyme deficiencies. Microscopic data include catalase staining and morphometry of peroxisomes, immunolocalization of beta-oxidation enzymes, detection of trilamellar, polarizing inclusions in PAS-positive macrophages, fibrosis and iron storage. Peroxisomal enlargement appears to be related to functional deficit in beta-oxidation disorders as well as in rhizomelic chondrodysplasia punctata. Because normal peroxisomal localization of active beta-oxidation enzymes can accompany a C26 beta-oxidation deficit, other mechanisms such as impaired transport of metabolites should be investigated. 'Ghost'-like organelles are shown in the liver of an infantile Refsum patient and in an NALD-like case; immuno-gold labelling of membrane proteins did not reveal ghosts in Zellweger livers.
Roels
F
F
Faculty of Medicine and Pharmacy, Vrije Unversiteit Brussel, Belgium.
Espeel
M
M
De Craemer
D
D
D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008099:Liver / Q000196:embryology / Q000201:enzymology* / Q000473:pathology*; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008830:Microbodies / Q000473:pathology*; D010084:Oxidation-Reduction