Sphingolipids, Sphingolipidoses and Allied Disorders ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY Editorial Board: Nathan Back Chairman, Department of Biochemical Pharmacology, School of Pharmacy, State University of New York, Buffalo, New York N. R. Di Luzio Chairman, Department of Physiology, Tulane University School of Medicine, New Orleans, Louisiana Al£red Gellhorn University of Pennsylvania Medical School, Philadelphia, Pennsylvania Bernard Halpern College de France, Director of the Institute of Immuno.Biology, Paris, France Ephraim Katchalski Department of Biophysics, The Weizmann Institute of Science, Rehovoth, Israel David Kritchevsky Wistar Institute, Philadelphia, Pennsylvania Abel Lajtha New York State Research Institute for Neurochemistry and Drug Addiction, Ward's Island, New York Rodolfo Paoletti Institute of Pharmacology, University of Milan, Milan, Italy Volume 1 THE RETICULOENDOTHELIAL SYSTEM AND ATHEROSCLEROSIS Edited by N. R. Di Luzio and R. Paoletti· 1967 Volume 2 PHARMACOLOGY OF HORMONAL POLYPEPTIDES AND PROTEINS Edited by N. Back, L. Martini, and R. Paoletti· 1968 Volume 3 GERM·FREE BIOLOGY: Experimental and Clinical Aspects Edited by E. A. Mirand and N. Back· 1969 Volume 4. DRUGS AFFECTING LIPID METABOLISM Edited by W. L. Holmes, L. A. Carlson, and R. Paoletti· 1969 Volume 5 LYMPHATIC TISSUE AND GERMINAL CENTERS IN IMMUNE RESPONSE Edited by L. Fiore.Donati and M. G. Hanna, Jr.· 1969 Volume 6 RED CELL METABOLISM AND FUNCTION Edited by George J. Brewer· 1970 Volume 7 SURFACE CHEMISTRY OF BIOLOGICAL SYSTEMS Edited by Martin Blank· 1970 Volume 8 BRADYKININ AND RELATED KININS: Cardiovascular, Biochemical, and Neural Actions Edited by F. Sicuteri, M. Rocha e Silva, and N. Back· 1970 Volume 9 SHOCK: Biochemical, Pharmacological, and Clinical Aspects Edited by A. Bertelli and N. Back· 1970 Volume 10 THE HUMAN TESTIS Edited by E. Rosemberg and C. A. Paulsen· 1970 Volume 11 MUSCLE METABOLISM DURING EXERCISE Edited by B. Pernow and B. Sahin • 1971 Volume 12 MORPHOLOGICAL AND FUNCTIONAL ASPECTS OF IMMUNITY Edited by K. Lindahl.Kiessling, G. AIm, and M. G. Hanna, Jr. • 1971 Volume 13 CHEMISTRY AND BRAIN DEVELOPMENT Edited by R. Paoletti and A. N. Davison -1971 Volume 14 MEMBRANE-BOUND ENZYMES Edited by G. Porcellati and F. di leso -1971 Volume 15 THE RETICULOENDOTHELIAL SYSTEM AND IMMUNE PHENOMENA Edited by N. R. Di Luzio and K. Flemming -1971 Volume 16A THE ARTERY AND THE PROCESS OF ARTERIOSCLEROSIS: Pathogenesis Edited by Stewart Wolf -1971 Volume 16B THE ARTERY AND THE PROCESS OF ARTERIOSCLEROSIS: Measurement and Modification Edited by Stewart Wolf -1972 Volume 17 CONTROL OF RENIN SECRETION Edited by Tatiana A. Asaaykeen -1972 Volume 18 THE DYNAMICS OF MERISTEM CELL POPULATIONS Edited by Morton W. Miller and Charles C. Kuehnert -1972 Volume 19 SPHINGOLIPIDS. SPHINGOLIPIDOSES AND ALLIED DISORDERS Edited by Bruno W. Volk and Stanley M. Aronson. 1972 Volume 20 DRUG ABUSE: Nonmedical Use or Dependence.Producing Drul!8 Edited by Simon Btesh .1972 Volume 21 V ASOACTIVE POLYPEPTIDES Edited by N. Back and F. Sicuteri • 1972 Volume 22 COMPARATIVE PATHOPHYSIOLOGY OF CIRCULATORY DISTURBANCES Edited by Colin M. Bloor • 1972 Volume 23 THE FUNDAMENTAL MECHANISMS OF SHOCK Edited by Lerner B. Hinshaw and Barbara G. Cox • 1972 Volume 24 THE VISUAL SYSTEM: Clinical Applications of Neurophysiology and Biophysics Edited by G. B. Arden. 1972 Volume 25 GLYCOLIPIDS, GLYCOPROTEINS, AND MUCOPOLYSACCHARIDES OF THE NERVOUS SYSTEM Edited by Vittorio Zambotti, Guido Tettamanti, and Mariagrazia Arrigoni. 1972 Sphingolipids, Sphingolipidoses and Allied Disorders Proceedings of the Symposium on Sphingolipidoses and Allied Disorders held in Brooklyn, New York, October 25·27, 1971 Edited by Bruno W. Yolk Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and Department of Pathology, State University of New York Downstate Medical Center Brooklyn, New York and Stanley M. Aronson Department of Pathology Miriam Hospital and Brown University Providence, Rhode Island 9:> SPRINGER SCIENCE+BUSINESS MEDIA, LLC 1972 Library of Congress Catalog Card Numher 71-188925 ISBN 978-1-4757-6572-4 ISBN 978-1-4757-6570-0 (eBook) DOI 10.1007/978-1-4757-6570-0 © 1972 Springer Science+Business Media New York Originally published by Plenum Press, New York in 1972 Softcover reprint of the hardcover 1s t edition 1972 AII rights reserved No part of this publication may be reproduced in any form without written permission from the puhlisher ACKNOWLEDGMENTS The Editors wish to acknowledge the invaluable assistance of Mr. Herbert Fischler, Chief Medical Photographer, Mrs. Renee Brenner and Mrs. Sarah Ginsberg in the preparation of this book. PREFACE 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. The editors hope that the prompt publication of these proceedings will encourage others not only to direct their x PREFACE scientific attention to the still unsolved problems, but also to pose those questions as yet unasked regarding the systemic sphingolipidoses. B.W.V. S.M.A. Brooklyn, New York October 27, 1971 CONTRIBUTORS AND PARTICIPANTS MASAZUMI ADACHI, Department of Neuropathology, Isaac Albert Research Institute of the Kingsbrook Jewish Medical.Center, Brooklyn, New York~ Department of Pathology, New York University School of Medicine, New York, New York DANIEL AMSTERDAM, Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Brooklyn, New York~ Department of Microbiology, Mt. Sinai School of Medicine, New York, New York STANLEY M. ARONSON, Department of pathology, Miriam Hospital-Brown University, Providence, Rhode Island JAMES A. AUSTIN, Division of Neurology, University of Colorado Medical Center, Denver, Colorado YECHEZKEL BARENHOLZ, Department of Biochemistry, The Hebrew University-Hadassah Medical School, Jerusalem, Israel ROBERT W. BARTON, National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland ROLF BLOMSTRAND, Karolinska Institute, Stockholm, Sweden SAMUEL BOGOCH, Boston University School of Medicine, Foundation for Research on the Nervous System, Boston, Massachusetts~ and Dreyfus Medical Founda tion, New York, New York ILANA BORKOVSKI-KUBILER, Department of Biochemistry, The Hebrew University-Hadassah Medical School, Jerusalem, Israel PARTICIPANTS xii ROSCOE 0 BRADY, Laboratory of Neurochemistry, National 0 Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland JAN L. BRESLOW, Molecular Disease Branch, National Heart and Lung Institute, National Institutes of Health, Bethesda, Maryland ROBERT M. BURTON, Departments of Pharmacology, Pediatrics and Pathology, The Beaumont-May Institute of Neurol ogy, Washington University Medical School, st. Louis, Missouri MICHAEL CANTZ, National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland J. A. CIFONELLI, Departments of Pediatrics and Biochem istry, Joseph P. Kennedy, Jr. Mental Retardation Research Center and La Rabida-University of Chicago Institute, University of Chicago, Chicago, Illinois JOE T.R. CLARKE, The Donner Laboratory of Experimental Neurochemistry, Montreal Neurological Institute, McGill university, Montreal, Canada ALLEN C. CROCKER, Departments of Medicine and Surgery, Children's Hospital Medical Center~ Department of Pediatrics, Harvard Medical School, Boston, Massachusetts JOEL A. DAIN, Department of Biochemistry, University of Rhode Island, Kingston, Rhode Island GLYN DAWSON, Departments of Pediatrics and Biochemistry, Joseph P. Kennedy, Jr. Mental Retardation Research Center, University of Chicago, Chicago, Illinois JEFFERY G. DERGE, National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland ROBERT J. DESNICK, Department of Pediatrics and Dight Institute for Human Gene-::ics, University of Minne sota Medical School, Minneapolis, Minnesota S.J. DESNICK, Department of Pediatrics and Dight Insti tute for Human Genetics, University of Minnesota Medical School, Minneapolis, Minnesota