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Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

Frank Roels (UGent) , Marc Espeel (UGent) and Dirk De Craemer (UGent)
Author
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

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Chicago
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.
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.
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.
MLA
Roels, Frank, Marc Espeel, and Dirk De Craemer. “Liver Pathology and Immunocytochemistry in Congenital Peroxisomal Diseases: a Review.” JOURNAL OF INHERITED METABOLIC DISEASE 14.6 (1991): 853–875. Print.
@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},
  keyword      = {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://dx.doi.org/10.1007/BF01800464},
  volume       = {14},
  year         = {1991},
}

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