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.

Contenu

Contributors and Participants
Morphological 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 Melanosis
Biochemical 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 GangliosidesâEUR An 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 Disease
Genetic 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 Involvement
Summary Remarks
Index