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Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review
Author(s) -
Roels F.,
Espeel M.,
De Craemer D.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800464
Subject(s) - zellweger syndrome , peroxisomal disorder , chondrodysplasia punctata , peroxisome , phytanic acid , biology , adrenoleukodystrophy , endocrinology , pathology , medicine , biochemistry , anatomy , gene
Summary 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 β ‐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 β ‐oxidation disorders as well as in rhizomelic chondrodysplasia punctata. Because normal peroxisomal localization of active β ‐oxidation enzymes can accompany a C 26 β ‐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.