Clinical approach to inherited peroxisomal disorders: a series of 27 patients

Annals of Neurology
M R BaumgartnerJ M Saudubray


To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and 1997. Twenty patients presented with a phenotype corresponding either to Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease, 3 of whom had a peroxisomal disorder due to a single enzyme defect. One patient had a mild form of rhizomelic chondrodysplasia punctata, 1 had classic Refsum disease. Finally, 5 patients presented with clinical manifestations that were either unusually mild or completely atypical, and initially did not arouse suspicion of a peroxisomal disorder. They showed multiple defects of peroxisomal functions with one or several functions remaining intact, suggesting a peroxisome biogenesis disorder. The defect in peroxisome biogenesis was further characterized by variable expression in different tissues and/or individual cells in 5 patients. Studies restricted to fibroblasts failed to identify abnormalities in this group. We demonstrate that clinical manifestations of peroxisomal disorders may be very mild or completely atypical, and therefore, peroxisomal disorders should be considered in a variety of clinical settings. Furthermore...Continue Reading


Jan 1, 1992·Journal of Inherited Metabolic Disease·R J WandersJ M Tager
Jan 1, 1991·Journal of Inherited Metabolic Disease·B T Poll-TheJ M Saudubray
Oct 1, 1986·American Journal of Medical Genetics·F RoelsJ M Saudubray
May 1, 1988·The Journal of Pediatrics·G HoeflerL Rutledge
Apr 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·A W SchramJ M Tager
Mar 1, 1989·The Journal of Clinical Investigation·P A WatkinsM E Beard
Jun 19, 1986·The New England Journal of Medicine·G HoffmannL Sweetman
Jan 1, 1988·Virchows Archiv. A, Pathological Anatomy and Histopathology·F RoelsJ M Saudubray
Jan 1, 1995·Journal of Inherited Metabolic Disease·J L DhondtJ P Farriaux
Aug 1, 1995·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·M EspeelF Roels
Jan 1, 1994·Journal of Inherited Metabolic Disease·R J WandersD Lecoutere
Jan 1, 1994·Journal of Inherited Metabolic Disease·R B SchutgensM von Schutz
Oct 1, 1994·The Journal of Pediatrics·H MandelR B Schutgens
Mar 1, 1994·Annals of Clinical Biochemistry·H J ten BrinkC Jakobs
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersP Mooijer
Jan 1, 1995·Journal of Inherited Metabolic Disease·R J WandersB S Jacobs
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
Mar 1, 1997·Journal of Inherited Metabolic Disease·W Endres
Apr 1, 1997·Nature Genetics·S Subramani
Jul 10, 1997·The New England Journal of Medicine·G A JansenS J Mihalik
Nov 5, 1997·Journal of Inherited Metabolic Disease·E ChristensenR J Wanders

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