Diagnosis of human peroxisomal disorders

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.

List of contents

Clinical approach to inherited peroxisomal disorders.- Neuropathology of peroxisomal diseases.- DNA diagnosis of X-linked adrenoleukodystrophy.- Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography - mass spectrometry.- Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: therapeutic implications.- Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography.- Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts.- Measurement of dihydroxyacetonephosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.- Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.- Measurement of peroxisomal fatty acid ?-oxidation in cultured human skin fibroblasts.- Activity measurements of acyl-CoA oxidases in human liver.- Immunocytochemical localization of peroxisomal proteins in human liver and kidney.- Liver and chorion cytochemistry.- Practical guide for morphometry of human peroxisomes on electron micrographs.- Secondary alterations of human hepatocellular peroxisomes.- Diagnostic work-up of a peroxisomal patient.

Summary

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 InheritedDisease, 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.

Product details

• Authors: ROELS
• Assisted by: G. T. N. Besley (Editor), G.T.N. Besley (Editor), Sylvia De Bie (Editor), Frank Roels (Editor), R. B. H. Schutgens (Editor), R.B.H. Schutgens (Editor)
• Publisher: Springer Netherlands
• Languages: English
• Product format: Paperback / Softback
• Released: 29.01.2013
• EAN: 9780792338550
• ISBN: 978-0-7923-3855-0
• No. of pages: 226
• Weight: 410 g
• Illustrations: V, 226 p. 85 illus.
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; Protein, C, skin, Medicine, fat, genetics, diagnosis, Pathology, INTERNAL MEDICINE, prevention, cell, proteins, Plasma, Cell Biology, Cells