title: Clinical approach to inherited peroxisomal disorders: a series of 27 patients.
abstract: 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, we suggest performing extensive peroxisomal investigations in every patient suspected of suffering from a peroxisomal disorder, even when the clinical presentation is typical.
authors.affiliation: Department of Pediatrics, Höpital Necker-Enfants Malades, Paris, France.
authors.forename: M R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: M
authors.initials: M
authors.lastname: Martinez
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000328:Adult; D017668:Age of Onset; D002264:Carboxylic Acids / Q000097:blood; D002648:Child; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000097:blood / Q000473:pathology / Q000503:physiopathology; D003241:Consanguinity; D005230:Fatty Acids, Nonesterified / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008830:Microbodies / Q000235:genetics / Q000473:pathology* / Q000648:ultrastructure; D018901:Peroxisomal Disorders / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D015211:Zellweger Syndrome / Q000097:blood / Q000473:pathology / Q000503:physiopathology
chemical_list: D002264:Carboxylic Acids; D005230:Fatty Acids, Nonesterified