This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
This book is the result of the Proceedings of the Fifth Symposium of the Society for the Study of Inborn Errors of Metabolism held at Newcastle upon Tyne, England in 1967.
The book consists of 14 papers on the genetics, biochemistry, and pathology of muscle diseases and central nervous system degenerative diseases. In general, the emphasis is on the review of recent developments in these fields, rather than the authors' presentation of their original material. The overall level of the symposium is very good. The chapters by D. N. Raine and H. Jatzkewitz on recent advances in the biochemistry of the sphingolipidoses are outstanding. Their discussion of the nomenclature and classification of the ganglioside diseases (Tay-Sachs) in terms of their biochemical abnormalities is very useful. Diagrams and explanations showing the biochemical interrelationships of such entities as the amaurotic idiocies, Krabbe's globoid leukodystrophy, metachromatic leukodystrophy, Fabry's disease, and Gaucher's disease