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Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review

Frank Roels, Marc Espeel and Dirk De Craemer UGent (1991) JOURNAL OF INHERITED METABOLIC DISEASE. 14(6). p.853-875
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (review)
publication status
published
subject
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
journal title
JOURNAL OF INHERITED METABOLIC DISEASE
J. Inherit. Metab. Dis.
volume
14
issue
6
pages
853 - 875
Web of Science type
Review
ISSN
0141-8955
DOI
10.1007/BF01800464
language
English
UGent publication?
no
classification
A1
id
224476
handle
http://hdl.handle.net/1854/LU-224476
date created
2004-05-24 13:24:00
date last changed
2016-12-19 15:38:51
@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},
}

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.