Liver pathology and immunocytochemistry in congenital peroxisomal diseases : a review
- Author
- Frank Roels (UGent) , Marc Espeel (UGent) and Dirk De Craemer (UGent)
- Organization
- Abstract
- 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.
- Keywords
- HEPATO-RENAL SYNDROME, BETA-OXIDATION ENZYMES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, INFANTILE REFSUM DISEASE, ACID STORAGE DISEASE, PSEUDO-NEONATAL ADRENOLEUKODYSTROPHY, X-LINKED ADRENOLEUKODYSTROPHY, ZELLWEGER-LIKE SYNDROME, CENTRAL-NERVOUS-SYSTEM, PHYTANIC ACID
Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-224476
- MLA
- Roels, Frank, et al. “Liver Pathology and Immunocytochemistry in Congenital Peroxisomal Diseases : A Review.” JOURNAL OF INHERITED METABOLIC DISEASE, vol. 14, no. 6, 1991, pp. 853–75, doi:10.1007/BF01800464.
- APA
- Roels, F., Espeel, M., & De Craemer, D. (1991). Liver pathology and immunocytochemistry in congenital peroxisomal diseases : a review. JOURNAL OF INHERITED METABOLIC DISEASE, 14(6), 853–875. https://doi.org/10.1007/BF01800464
- Chicago author-date
- Roels, Frank, Marc Espeel, and Dirk De Craemer. 1991. “Liver Pathology and Immunocytochemistry in Congenital Peroxisomal Diseases : A Review.” JOURNAL OF INHERITED METABOLIC DISEASE 14 (6): 853–75. https://doi.org/10.1007/BF01800464.
- Chicago author-date (all authors)
- Roels, Frank, Marc Espeel, and Dirk De Craemer. 1991. “Liver Pathology and Immunocytochemistry in Congenital Peroxisomal Diseases : A Review.” JOURNAL OF INHERITED METABOLIC DISEASE 14 (6): 853–875. doi:10.1007/BF01800464.
- Vancouver
- 1.Roels F, Espeel M, De Craemer D. Liver pathology and immunocytochemistry in congenital peroxisomal diseases : a review. JOURNAL OF INHERITED METABOLIC DISEASE. 1991;14(6):853–75.
- IEEE
- [1]F. Roels, M. Espeel, and D. De Craemer, “Liver pathology and immunocytochemistry in congenital peroxisomal diseases : a review,” JOURNAL OF INHERITED METABOLIC DISEASE, vol. 14, no. 6, pp. 853–875, 1991.
@article{224476, abstract = {{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.}}, author = {{Roels, Frank and Espeel, Marc and De Craemer, Dirk}}, issn = {{0141-8955}}, journal = {{JOURNAL OF INHERITED METABOLIC DISEASE}}, keywords = {{HEPATO-RENAL SYNDROME,BETA-OXIDATION ENZYMES,RHIZOMELIC CHONDRODYSPLASIA PUNCTATA,INFANTILE REFSUM DISEASE,ACID STORAGE DISEASE,PSEUDO-NEONATAL ADRENOLEUKODYSTROPHY,X-LINKED ADRENOLEUKODYSTROPHY,ZELLWEGER-LIKE SYNDROME,CENTRAL-NERVOUS-SYSTEM,PHYTANIC ACID}}, language = {{eng}}, number = {{6}}, pages = {{853--875}}, title = {{Liver pathology and immunocytochemistry in congenital peroxisomal diseases : a review}}, url = {{http://doi.org/10.1007/BF01800464}}, volume = {{14}}, year = {{1991}}, }
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