Diagnosis of human peroxisomal disorders

A handbook

  • Frank Roels
  • Sylvia De Bie
  • Ruud B. H. Schutgens
  • Guy T. N. Besley

Table of contents

  1. Front Matter
    Pages N2-v
  2. F. Poggi-Travert, B. Fournier, B. T. Poll-The, J.-M. Saudubray
    Pages 1-18
  3. J.-J. Martin
    Pages 19-33
  4. S. Seneca, W. Lissens
    Pages 34-44
  5. R. J. A. Wanders, R. Ofman, G. J. Romeijn, R. B. H. Schutgens, P. A. W. Mooijer, C. Dekker et al.
    Pages 90-100
  6. R. J. A. Wanders, C. Dekker, R. Ofman, R. B. H. Schutgens, P. Mooijer
    Pages 101-112
  7. R. J. A. Wanders, S. Denis, J. P. N. Ruiter, R. B. H. Schutgens, C. W. T. van Roermund, B. S. Jacobs
    Pages 113-124
  8. F. Roels, B. De Prest, G. De Pestel
    Pages 155-171
  9. I. Kerckaert, D. De Craemer, G. Van Limbergen
    Pages 172-180
  10. J. G. Leroy, M. Espeel, J. F. Gadisseux, H. Mandel, M. Martinez, B. T. Poll-The et al.
    Pages 214-222
  11. Back Matter
    Pages 223-227

About this book


Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject.
Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA.
In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire.
Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.


biology blood brain cell cell biology cells diagnosis fat genetics pathology plasma prevention protein proteins skin

Editors and affiliations

  • Frank Roels
    • 1
  • Sylvia De Bie
    • 2
  • Ruud B. H. Schutgens
    • 3
  • Guy T. N. Besley
    • 4
  1. 1.Faculty of Medicine and University HospitalUniversity of GentBelgium
  2. 2.Center for Medical GeneticsUniversity HospitalGentBelgium
  3. 3.Departments of Pediatrics and Obstetrics and GynaecologyUniversity Hospital of the University of AmsterdamThe Netherlands
  4. 4.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalManchesterUK

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media B.V. 1995
  • Publisher Name Springer, Dordrecht
  • eBook Packages Springer Book Archive
  • Print ISBN 978-0-7923-3855-0
  • Online ISBN 978-94-011-9635-2
  • Buy this book on publisher's site