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GM1-Gangliosidosis: Correlation of Clinical and Biochemical Data

GM1-Gangliosidosis: Correlation of Clinical and Biochemical Data Abstract IN 1964, Landing et al1 established "familial neurovisceral lipidosis" as a clinicopathological entity. The same disease has also been called generalized gangliosidosis,2-7 late infantile systemic lipidosis,8-11 GM1-gangliosidosis,3,12-18 familial infantile amaurotic idiocy with visceral involvement,19,20 biochemically special form of infantile amaurotic idiocy,21,22 and Landing disease.5,14,17,23 The disease is characterized by generalized accumulation of a monosialoganglioside, GM1 (ganglioside nomenclature of Svennerholm24 ), and visceral accumulation of keraton sulfate-like mucopolysaccharide.12,18 Enzymatically, deficiency of β-galactosidase has been demonstrated in various organs.4,5,7,14,16-18,23,25,26 From the clinical viewpoint, there appear to be two subtypes.10 Patients in the infantile age category often exhibit abnormal facies, full forehead, and radiologically detectable bony changes reminiscent of Hurler's syndrome. On the other hand, some older patients in the "late infantile" age group show few or no clinical or radiologie signs of Hurler's syndrome. The present study was References 1. Landing BH, Silverman FN, Craig JM, et al: Familial neurovisceral lipidosis . Amer J Dis Child 108:503-522, 1964.Crossref 2. O'Brien JS, Stem MB, Landing BH, et al: Generalized gangliosidosis . Amer J Dis Child 109:338-346, 1965.Crossref 3. Suzuki K, Chen GC: Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis) . J Lipid Res 8:105-113, 1967. 4. Okada S, O'Brien JS: Generalized gangliosidosis: Beta-galactosidase deficiency . Science 160:1002-1004, 1968.Crossref 5. Seringe P, Plainfosse B, Lautmann F, et al: Gangliosidose généralisée, du type Norman-Landing, à GM1 . Ann Pediat 44:685-704, 1968. 6. O'Brien J: Generalized gangliosidosis . J Pediat 75:167-186, 1969.Crossref 7. MacBrinn MC, Okada S, Ho MW, et al: Generalized gangliosidosis: Impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein . Science 163:946-947, 1969.Crossref 8. Gonatas NK, Gonatas J: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropath Exp Neurol 24:318-340, 1965.Crossref 9. Ledeen R, Salsman K, Gonatas J, et al: Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis: Part 1 . J Neuropath Exp Neurol 24:341-351, 1965.Crossref 10. Derry DM, Andermann F, Fawcett JS, et al: Late infantile systemic lipidosis: Major monosialogangliosidosis: Delineation of two types . Neurology 18:340-348, 1968.Crossref 11. Suzuki K, Suzuki K, Chen GC: Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis) . J Neuropath Exp Neurol 27:15-38, 1968.Crossref 12. Suzuki GM1-gangliosidosis: Chemical pathology of visceral organs K: Cerebral . Science 159:1471-1472, 1968.Crossref 13. Suzuki K, Suzuki K, Chen GC: GM1-gangliosidosis (generalized gangliosidosis): Morphology and chemical pathology , in Vicente AN, Dustin P, Lowenthal A (eds): Cerebral Lipidoses II . Brussels, Belgium, Presses Académique Européennes, 1968, pp 275-294. 14. Dacremont G, Kint JA: GM1-ganglioside accumulation and β-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease) . Clin Chim Acta 21:421-425, 1968.Crossref 15. Suzuki K, Suzuki D, Kamoshita S: Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis) . J Neuropath Exp Neurol 28:25-73, 1969.Crossref 16. Hubain P, Adam E, Dewelle A, et al: Etude d'une observation de gangliosidose à GM1 . Helv Paediat Acta 24:337-351, 1969. 17. Hooft C, Senesael L, Delbeke MJ, et al: The GM1-gangliosidosis (Landing disease) . Europ Neurol 2:225-241, 1969.Crossref 18. Wolfe LS, Callahan J, Fawcett JS, et al: Gml-gangliosidosis without chondrodystrophy or visceromegaly: β-galactosidase deficiency with gangliosidosis and the excessive excretion of keratan sulfate . Neurology 20:23-51, 1970.Crossref 19. Gigonnet J-M: A propos d'une observation d'idiotie amaurotique infantile avec atteinte viscérale, thesis. Strasbourg, No. 79, 1965, p 62. 20. Attal C, Farkas-Bargeton E, Edgar GWF, et al: Idiotie amaurotique infantile familiale avec surcharge viscerale . Ann Pediat 14:1725-1733, 1967. 21. Jatzkewitz H, Sandhoff K: On a biochemically special form of infantile amaurotic idiocy . Biochim Biophys Acta 70:354-356, 1963.Crossref 22. Jatzkewitz H, Pilz H, Sandhoff K: Quantitative Bestimmungen von Gangliosiden und ihren neuraminsäurefreien Derivaten bei infantilen, juvenilen und adulten Formen der amaurotischen Idiotie und einer spätinfantilen biochemischen Sonderform . J Neurochem 12:135-144, 1965.Crossref 23. Sacrez R, Juif JG, Gigonnet JM, et al: La maladie de Landing ou idiotie amaurotique infantile precoce avec gangliosidose généralisée de type GM1 . Pédiatrie 22:143-162, 1967. 24. Svennerholm L: Chromatographic separation of human brain gangliosides . J Neurochem 10:613-623, 1963.Crossref 25. van Hoof F, Hers HG: The abnormalities of lysosomal enzymes in mucopolysaccharidoses . Europ J Biochem 7:34-44, 1968.Crossref 26. Sloan HR, Uhlendorf BW, Jacobson CB, et al: β-Galactosidase in tissue culture derived from human skin and bone . Pediat Res 3:532-537, 1969.Crossref 27. Gatt S, Rapport MM: Isolation of β-galactosidase and β-glucosidase from brain . Biochim Biophys Acta 113:567-576, 1966.Crossref 28. Frohwein YZ, Gatt S: Isolation of β-N-acetylhexosaminidase, β-N-acetylglucosaminidase, and β-N-acetylgalactosaminidase from calf brain . Biochemistry 6:2775-2782, 1967.Crossref 29. Smithies O: An improved procedure for starch-gel electrophoresis: Further variations in the serum proteins of normal individuals . Biochem J 71:585-587, 1959. 30. Suzuki K: Ganglioside patterns of normal and pathological brains , in Aronson SM, Volk BW (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press, 1967, pp 215-230. 31. Suzuki Y, Suzuki K: Partial deficiency of hexosaminidase component A in juvenile GM2 gangliosidosis . Neurology 20:848-851, 1970.Crossref 32. Terry RD, Weiss M: Studies in Tay-Sachs disease: II. Ultrastructure of the cerebrum . J Neuropath Exp Neurol 22:18-55, 1963.Crossref 33. O'Brien JS: Five gangliosidoses . Lancet 2:805, 1969.Crossref 34. Ho MW, O'Brien JS: Hurler's syndrome: Deficiency of a specific beta-galactosidase isozyme . Science 165:611-613, 1969.Crossref 35. Öckerman PA: Lysosomal acid hydrolases in the liver in gargoylism: Deficiency of 4-methylumbelliferyl-β-galactosidase . Scand J Clin Lab Invest 22:142-146, 1968.Crossref 36. Öckerman PA, Köhlin P: Glycosidases in skin and plasma in Hunter's syndrome: Abnormality of a β-galactosidase in skin . Acta Paediat Scand 57:281-284, 1968.Crossref 37. Gerich JE: Hunter's syndrome: Beta-galactosidase deficiency in skin . New Eng J Med 280:799-802, 1969.Crossref 38. MacBrinn MC, Okada S, Woollacott J, et al: Beta-galactosidase deficiency in the Hurler syndrome . New Eng J Med 281:338-343, 1969.Crossref 39. Öckerman PA, Hultberg B: Fractionation of 4-methylumbelliferyl-β-galactosidase activities in liver in gargoylism . Scand J Clin Lab Invest 22:199-202, 1968.Crossref 40. Dorfman A.: Read before the Symposium on Lipid storage diseases: Enzymatic defects and clinical implications. Chicago, April 1970. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

GM1-Gangliosidosis: Correlation of Clinical and Biochemical Data

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References (48)

Publisher
American Medical Association
Copyright
Copyright © 1971 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1971.00480310086008
Publisher site
See Article on Publisher Site

Abstract

Abstract IN 1964, Landing et al1 established "familial neurovisceral lipidosis" as a clinicopathological entity. The same disease has also been called generalized gangliosidosis,2-7 late infantile systemic lipidosis,8-11 GM1-gangliosidosis,3,12-18 familial infantile amaurotic idiocy with visceral involvement,19,20 biochemically special form of infantile amaurotic idiocy,21,22 and Landing disease.5,14,17,23 The disease is characterized by generalized accumulation of a monosialoganglioside, GM1 (ganglioside nomenclature of Svennerholm24 ), and visceral accumulation of keraton sulfate-like mucopolysaccharide.12,18 Enzymatically, deficiency of β-galactosidase has been demonstrated in various organs.4,5,7,14,16-18,23,25,26 From the clinical viewpoint, there appear to be two subtypes.10 Patients in the infantile age category often exhibit abnormal facies, full forehead, and radiologically detectable bony changes reminiscent of Hurler's syndrome. On the other hand, some older patients in the "late infantile" age group show few or no clinical or radiologie signs of Hurler's syndrome. The present study was References 1. Landing BH, Silverman FN, Craig JM, et al: Familial neurovisceral lipidosis . Amer J Dis Child 108:503-522, 1964.Crossref 2. O'Brien JS, Stem MB, Landing BH, et al: Generalized gangliosidosis . Amer J Dis Child 109:338-346, 1965.Crossref 3. Suzuki K, Chen GC: Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis) . J Lipid Res 8:105-113, 1967. 4. Okada S, O'Brien JS: Generalized gangliosidosis: Beta-galactosidase deficiency . Science 160:1002-1004, 1968.Crossref 5. Seringe P, Plainfosse B, Lautmann F, et al: Gangliosidose généralisée, du type Norman-Landing, à GM1 . Ann Pediat 44:685-704, 1968. 6. O'Brien J: Generalized gangliosidosis . J Pediat 75:167-186, 1969.Crossref 7. MacBrinn MC, Okada S, Ho MW, et al: Generalized gangliosidosis: Impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein . Science 163:946-947, 1969.Crossref 8. Gonatas NK, Gonatas J: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism . J Neuropath Exp Neurol 24:318-340, 1965.Crossref 9. Ledeen R, Salsman K, Gonatas J, et al: Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis: Part 1 . J Neuropath Exp Neurol 24:341-351, 1965.Crossref 10. Derry DM, Andermann F, Fawcett JS, et al: Late infantile systemic lipidosis: Major monosialogangliosidosis: Delineation of two types . Neurology 18:340-348, 1968.Crossref 11. Suzuki K, Suzuki K, Chen GC: Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis) . J Neuropath Exp Neurol 27:15-38, 1968.Crossref 12. Suzuki GM1-gangliosidosis: Chemical pathology of visceral organs K: Cerebral . Science 159:1471-1472, 1968.Crossref 13. Suzuki K, Suzuki K, Chen GC: GM1-gangliosidosis (generalized gangliosidosis): Morphology and chemical pathology , in Vicente AN, Dustin P, Lowenthal A (eds): Cerebral Lipidoses II . Brussels, Belgium, Presses Académique Européennes, 1968, pp 275-294. 14. Dacremont G, Kint JA: GM1-ganglioside accumulation and β-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease) . Clin Chim Acta 21:421-425, 1968.Crossref 15. Suzuki K, Suzuki D, Kamoshita S: Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis) . J Neuropath Exp Neurol 28:25-73, 1969.Crossref 16. Hubain P, Adam E, Dewelle A, et al: Etude d'une observation de gangliosidose à GM1 . Helv Paediat Acta 24:337-351, 1969. 17. Hooft C, Senesael L, Delbeke MJ, et al: The GM1-gangliosidosis (Landing disease) . Europ Neurol 2:225-241, 1969.Crossref 18. Wolfe LS, Callahan J, Fawcett JS, et al: Gml-gangliosidosis without chondrodystrophy or visceromegaly: β-galactosidase deficiency with gangliosidosis and the excessive excretion of keratan sulfate . Neurology 20:23-51, 1970.Crossref 19. Gigonnet J-M: A propos d'une observation d'idiotie amaurotique infantile avec atteinte viscérale, thesis. Strasbourg, No. 79, 1965, p 62. 20. Attal C, Farkas-Bargeton E, Edgar GWF, et al: Idiotie amaurotique infantile familiale avec surcharge viscerale . Ann Pediat 14:1725-1733, 1967. 21. Jatzkewitz H, Sandhoff K: On a biochemically special form of infantile amaurotic idiocy . Biochim Biophys Acta 70:354-356, 1963.Crossref 22. Jatzkewitz H, Pilz H, Sandhoff K: Quantitative Bestimmungen von Gangliosiden und ihren neuraminsäurefreien Derivaten bei infantilen, juvenilen und adulten Formen der amaurotischen Idiotie und einer spätinfantilen biochemischen Sonderform . J Neurochem 12:135-144, 1965.Crossref 23. Sacrez R, Juif JG, Gigonnet JM, et al: La maladie de Landing ou idiotie amaurotique infantile precoce avec gangliosidose généralisée de type GM1 . Pédiatrie 22:143-162, 1967. 24. Svennerholm L: Chromatographic separation of human brain gangliosides . J Neurochem 10:613-623, 1963.Crossref 25. van Hoof F, Hers HG: The abnormalities of lysosomal enzymes in mucopolysaccharidoses . Europ J Biochem 7:34-44, 1968.Crossref 26. Sloan HR, Uhlendorf BW, Jacobson CB, et al: β-Galactosidase in tissue culture derived from human skin and bone . Pediat Res 3:532-537, 1969.Crossref 27. Gatt S, Rapport MM: Isolation of β-galactosidase and β-glucosidase from brain . Biochim Biophys Acta 113:567-576, 1966.Crossref 28. Frohwein YZ, Gatt S: Isolation of β-N-acetylhexosaminidase, β-N-acetylglucosaminidase, and β-N-acetylgalactosaminidase from calf brain . Biochemistry 6:2775-2782, 1967.Crossref 29. Smithies O: An improved procedure for starch-gel electrophoresis: Further variations in the serum proteins of normal individuals . Biochem J 71:585-587, 1959. 30. Suzuki K: Ganglioside patterns of normal and pathological brains , in Aronson SM, Volk BW (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press, 1967, pp 215-230. 31. Suzuki Y, Suzuki K: Partial deficiency of hexosaminidase component A in juvenile GM2 gangliosidosis . Neurology 20:848-851, 1970.Crossref 32. Terry RD, Weiss M: Studies in Tay-Sachs disease: II. Ultrastructure of the cerebrum . J Neuropath Exp Neurol 22:18-55, 1963.Crossref 33. O'Brien JS: Five gangliosidoses . Lancet 2:805, 1969.Crossref 34. Ho MW, O'Brien JS: Hurler's syndrome: Deficiency of a specific beta-galactosidase isozyme . Science 165:611-613, 1969.Crossref 35. Öckerman PA: Lysosomal acid hydrolases in the liver in gargoylism: Deficiency of 4-methylumbelliferyl-β-galactosidase . Scand J Clin Lab Invest 22:142-146, 1968.Crossref 36. Öckerman PA, Köhlin P: Glycosidases in skin and plasma in Hunter's syndrome: Abnormality of a β-galactosidase in skin . Acta Paediat Scand 57:281-284, 1968.Crossref 37. Gerich JE: Hunter's syndrome: Beta-galactosidase deficiency in skin . New Eng J Med 280:799-802, 1969.Crossref 38. MacBrinn MC, Okada S, Woollacott J, et al: Beta-galactosidase deficiency in the Hurler syndrome . New Eng J Med 281:338-343, 1969.Crossref 39. Öckerman PA, Hultberg B: Fractionation of 4-methylumbelliferyl-β-galactosidase activities in liver in gargoylism . Scand J Clin Lab Invest 22:199-202, 1968.Crossref 40. Dorfman A.: Read before the Symposium on Lipid storage diseases: Enzymatic defects and clinical implications. Chicago, April 1970.

Journal

Archives of NeurologyAmerican Medical Association

Published: Jan 1, 1971

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