Inborn Disorders of Sphingolipid Metabolism

Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.

Contributors and ParticipantsMorphological Studies Electron Microscopic Observations in Batten's Disease Juvenile Form of Amaurotic Family Idiocy. A Contribution to the Morphological, Histochemical and Electron Microscopic Aspects The Myoclonic Variant of Cerebral Lipidosis Anatomo-chemical Study of the White Matter in Late Infantile Amaurotic Idiocy The Fine Structure of the Brain and Other Organs in Niemann-Pick Disease Electron Microscopic and Histochemical Studies of Viscera in Lipidoses Luxol-Dye Staining in Lipid Storage Diseases Studies on Spongy Degeneration of the Central Nervous System (Van Bogaert-Bertrand Type) The Syndrome of Familial Leukodystrophy, Adrenal Insufficiency and Cutaneous MelanosisBiochemical Studies The Metabolism of Gangliosides in Cerebral Lipidoses Studies on the Biosynthesis of Gangliosides Studies on the Biosynthesis of Gangliosides Ganglioside Patterns of Normal and Pathological Brains Structural Studies of the Tay-Sachs Ganglioside and its Normal Brain Counterpart Isolation and Structural Analysis of Brain Gangliosides The Metabolism of Sialic Acids Comparison of Four Enzymes from Brain which Hydrolyze Sphingolipids The Nature of the Lipophilic Portions of the Brain Gangliosides Brain Proteins in the Sphingolipidoses: Tay-Sachs Disease Protein Comparative Studies of Normal Human and Tay-Sachs GangliosidesâEURAn Immunochemical Approach Variations in Lipid Composition of Human Brain During Development and in the Sphingolipidoses: Use of Two-dimensional Thin-layer Chromatography The Formation of Membrane Aggregates Determination of the Lipid Bases in the Lipids of Spinal Cord, Optic Nerve and Sciatic Nerve of Some Species Cerebroside Metabolism in Experimental Phenylketonuria and Galactosemia Some Recent Findings in Leukodystrophies and in Gargoylism Isolation and Characterization of the Principal Cerebral Glycolipids in the Infantile and Adult Forms of Gaucher's DiseaseGenetic and Clinical Studies Clinical Manifestations of Tay-Sachs Disease and Niemann-Pick Disease The Sleep-Dream Pattern in Tay-Sachs Disease (Preliminary Observations) On the Chemical Changes in the Red Cell Stroma in Tay-Sachs Disease: Their Value as Genetic Tracers Reproductive Fitness and Selection in Tay-Sachs Disease Persistence of a Metabolic Defect in Tissue Cultures Derived from Patients with Niemann-Pick Disease Studies on the Genetics of the Hurler-Hunter Syndrome Leukocytic Hypergranulation versus Lymphocytic Vacuolization as Markers for Heterozygotes and Homozygotes with Batten-Spielmeyer Vogt Disease The "Lipogranulomatosis" Syndrome: Review, with Report of Patient Showing Milder InvolvementSummary RemarksIndex