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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.
The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE,
Volume 16 (1993) contain the main lectures presented at the 30th
Annual Symposium of the Society for the Study of Inborn Errors of
Metabolism (SSIEM), Leuven, Belgium, 1992, which was dedicated to
Inherited Metabolic Diseases and the Brain'. Topics discussed
included: Inborn errors and brain fluids, neurotransmitter
disorders, inborn errors and demyelination, and recent
developments. Participants from many countries provided a
state-of-the-art review which will be of interest to clinicians and
research workers alike in many different disciplines.
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