Sphingolipids, Sphingolipidoses and Allied Disorders : Proceedings of the Symposium on Sphingolipidoses and Allied Disorders Held in Brooklyn, New York, October 25–27, 1971

This text contains the scientific contributions to the Fourth International Symposium on Sphingolipids, Sphingo­ lipidoses and Allied Disorders held at the Kingsbrook Jewish Medical Center on October 25-27, 1971. These meetings were conducted under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and the National Tay-Sachs and Allied Diseases Association, Inc. Four symposia, held in 1958, 1961, 1965 and 1971 were designed to gather the most relevant and innovative of the laboratory and field studies concerned with these hereditary disorders. The texts generated by these periodic meetings have mirrored the increasing absorption of the scientific community in the problems of sphingolipid metabolism. The first meeting in 1958 consisted of but twelve pre­ sentations, the majority emanating from local laboratories. The current sessions contain 48 scientific presentations by scientists from nine countries and demonstrate the increas­ ingly diversified techniques and approaches employed in the study of these diseases. Many of the authors, in exploring data on the mucopolysaccharidoses and leucodystrophies, as well as the sphingolipidoses, have given recognition to those biochemical areas held in common by these otherwise diverse disease processes. The problems of prevention and therapy of these diseases have been considered by some of the contributors. Laboratory screening procedures designed to detect carriers of the va­ rious lipidoses are now available and the experiences of some laboratories in this area are summarized within this volume. The prospective identification of heterozygotes may indeed become a powerful adjunct in genetic counseling. Front Matter....Pages i-xxvii Fine Structure of Early Tay-Sachs Disease....Pages 1-13 Biopsy Diagnosis of Lipidoses: Background Considerations, General Concepts and Practical Aspects....Pages 15-35 Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations....Pages 37-51 The Morphogenesis and Biochemical Characteristics of Ceroid Isolated from Cases of Neuronal Ceroid-Lipofuscinosis....Pages 53-61 Effect of Conditions of Extraction on the Extractability of Brain Gangliosides....Pages 63-76 Gangliosides of CSF and Plasma: Their Relation to the Nervous System....Pages 77-93 Ganglioside Inner Esters....Pages 95-102 Human Brain Lipid Composition Changes with Age and Alterations in Some Pathological States: A New Method of Graphic Analysis....Pages 103-126 Brain Glycoproteins and Inter-Cell Recognition: Tay-Sachs’ Disease and Intraneuronal Recognition....Pages 127-149 A Fast Moving Protein in Tay-Sachs Disease....Pages 151-162 Effect of Amino Acid Imbalance on Polyribosome Profiles and Protein Synthesis in Fetal Cerebral Cortex....Pages 163-174 Purification and Properties of Two Sphingolipid Hydrolases....Pages 175-186 Deficiency of Specific Proteins in the Inborn Errors of Mucopolysaccharide Metabolism....Pages 187-194 The Degradation of Acid Mucopolysaccharides and the Mucopolysaccharidoses....Pages 195-210 The Mucopolysaccharidoses as Lysosomal Diseases....Pages 211-223 Recent Observations on Gaucher’s Disease....Pages 225-236 Interaction of Enzymes with Lipid Substrates....Pages 237-256 Problems in Prenatal Diagnosis Using Sphingolipid Hydrolase Assays....Pages 257-267 Radioactive Precursor Incorporation into Lipids of Humans with Cerebral Lipidoses:1- 14 C-Glucosamine, U 3 H-Serine, and 3 H-Acetate....Pages 269-276 An Investigation of the Metabolism of Tay-Sachs Ganglioside Specifically Labeled in Critical Portions of the Molecule....Pages 277-285 Chemistry and Metabolism of Glycosphingolipids in Fabry’s Disease....Pages 287-304 The Chemical Pathology of Tay-Sachs Disease....Pages 305-319 Sandhoff’s Disease: Studies on the Enzyme Defect in Homozygotes and Detection of Heterozygotes....Pages 321-341 An Unusual Case of G M2 -Gangliosidosis with Deficiency of Hexosaminidase A and B....Pages 343-350 Sandhoff’s Disease: Ultrastructural and Biochemical Studies....Pages 351-371 Biochemical Studies on G M1 -Gangliosidosis and Ceramide Trihexosidosis....Pages 373-384 Chemical Pathology of Tay-Sachs Disease in the Fetus....Pages 385-394 Glycosphingolipid Abnormalities in Liver from Patients with Glycosphingolipid and Mucopolysaccharide Storage Diseases....Pages 395-413 Recent Advances in Metachromatic Leukodystrophy....Pages 415-428 Liver Glycolipids, Steroid Sulfates and Steroid Sulfatases in a Form of Metachromatic Leukodystrophy Associated with Multiple Sulfatase Deficiencies....Pages 429-450 In Vitro Studies in Sulfatide Lipidosis....Pages 451-473 Factors Affecting the Metabolism of Galactocerebroside and Glucocerebroside....Pages 475-485 Further Studies on Galactocerebroside β -Galactosidase in Globoid Cell Leukodystrophy....Pages 487-498 Brain Gangliosides in Krabbe Disease....Pages 499-514 Phytanic Acid Storage Disease....Pages 515-531 Studies on a Case of Lipogranulomatosis (Farber’s Disease) with Protracted Course....Pages 533-548 Biochemical Studies on Brain Explants and Fibroblast Cultures in Batten’s Disease....Pages 549-560 Population Dynamics of Tay-Sachs Disease. II. What Confers the Selective Advantage Upon the Jewish Heterozygote?....Pages 561-570 Effect of Maternal Protein Deficiency on Ganglioside Metabolism in Neonatal Rat Brain....Pages 571-579 Sphingolipidoses: Detection of Heterozygotes and Homozygotes....Pages 581-597 Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods....Pages 599-611 Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders....Pages 613-632 Metabolic Changes Following Splenic Transplantation in a Case of Gaucher’s Disease....Pages 633-639 Studies on the Metabolic Control of Fabry’s Disease Through Kidney Transplantation....Pages 641-649 The Induction of Sulfatide, Ganglioside and Cerebroside Storage in Organized Nervous System Cultures....Pages 651-660 Nutritional Support, Including Intravenous Alimentation, for the Infant with Wolman’s Disease....Pages 661-670 Precocious Puberty in Tay-Sachs Disease....Pages 671-685 Summary Remarks....Pages 687-691 This text contains the scientific contributions to the Fourth International Symposium on Sphingolipids, Sphingolipidoses and Allied Disorders held at the Kingsbrook Jewish Medical Center on October 25-27, 1971. These meetings were conducted under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and the National Tay-Sachs and Allied Diseases Association, Inc. Pour symposia, held in 1958, 1961, 1965 and 1971 were designed to gather the most relevant and innovative of the laboratory and field studies concerned with these hereditary disorders. The texts generated by these periodic meetings have mirrored the increasing absorption of the scientific community in the problems of sphingolipid metabolism. The first meeting in 1958 consisted of but twelve presentations, the majority emanating from local laboratories. The current sessions contain 48 scientific presentations by scientists from nine countries and demonstrate the increasingly diversified techniques and approaches employed in the study of these diseases. Many of the authors, in exploring data on the mucopolysaccharidoses and leucodystrophies, as well as the sphingolipidoses, have given recognition to those biochemical areas held in common by these otherwise diverse disease processes. The problems of prevention and therapy of these diseases have been considered by some of the contributors. Laboratory screening procedures designed to detect carriers of the various lipidoses are now available and the experiences of some laboratories in this area are summarized within this volume. The prospective identification of heterozygotes may indeed become a powerful adjunct in genetic counseling. The editors hope that the prompt publication of these proceedings will encourage others not only to direct their scientific attention to the still unsolved problems, but also to pose those questions as yet unasked regarding the systemic sphingolipidoses.