PMID: 7931872Oct 1, 1994Paper

A new type of peroxisomal disorder with variable expression in liver and fibroblasts

The Journal of Pediatrics
Hanna MandelR B Schutgens

Abstract

We describe two siblings, presently 5 and 9 years of age, who had neurodegenerative symptoms after the first year of life. Although they lacked clinical characteristics of a peroxisomal disorder, they had elevated levels of plasma very long chain fatty acids, pipecolic and phytanic acids, and abnormal bile acid intermediates, which suggested a generalized peroxisome deficiency disorder. Immunocytochemical study and electron microscopy of the liver disclosed absence of peroxisomes in approximately 90% of hepatocytes. However, the remaining 10% of the hepatocytes had numerous normal-looking peroxisomes containing catalase activity and catalase antigen. Alanine glyoxylate aminotransferase and the peroxisomal beta-oxidation enzymes acyl-coenzyme A oxidase and 3-ketoacyl coenzyme A thiolase were also present in the organelles. Both cell types were grouped in clusters. In contrast to most of the liver cells, fibroblasts cultured from skin biopsy specimens had normal peroxisomal functions. Thus this defect in peroxisome biogenesis is characterized by variable expression in different tissues (liver vs fibroblasts), as well as within individual cells in the same tissue (liver mosaicism). Awareness of the heterogeneity in tissue expressi...Continue Reading

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Citations

Jan 1, 1995·Journal of Inherited Metabolic Disease·F Poggi-TravertJ M Saudubray
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersP Mooijer
Jan 1, 1995·Journal of Inherited Metabolic Disease·M Espeel, G Van Limbergen
Jan 1, 1995·Journal of Inherited Metabolic Disease·F RoelsG De Pestel
Jan 1, 1995·Journal of Inherited Metabolic Disease·I KerckaertG Van Limbergen
Jan 1, 1995·Journal of Inherited Metabolic Disease·J G LeroyF Roels
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Sabine WellerDavid Valle
Jan 26, 2006·Journal of Inherited Metabolic Disease·R J Soorani-LunsingJ P Rake
Jan 16, 1999·Baillière's Clinical Gastroenterology·J R Poley, M J Nowicki
Oct 21, 1999·Molecular Genetics and Metabolism·H W Moser
Oct 24, 2006·Biochimica Et Biophysica Acta·Steven J SteinbergHugo W Moser
Nov 26, 1999·Journal of Child Neurology·M PinedaT Pampols
Dec 31, 1997·Microscopy Research and Technique·M EspeelF Roels
Aug 1, 1995·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·M EspeelF Roels
May 13, 2003·Microscopy Research and Technique·Marianne DepreterFrank Roels
Nov 25, 2003·Pediatric Research·Jeannette GootjesRonald J A Wanders
Nov 21, 2017·Translational Science of Rare Diseases·Catherine ArgyriouNancy Braverman
Nov 18, 1998·Annals of Neurology·M R BaumgartnerJ M Saudubray

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