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Studies in Metachromatic Leukodystrophy: XII. Multiple Sulfatase Deficiency

Studies in Metachromatic Leukodystrophy: XII. Multiple Sulfatase Deficiency Abstract Multiple sulfatase deficiency form of metachromatic leukodystrophy (MSD-MLD) occurred in a young boy. In blood smears, leukocyte Alder-Reilly granulation abnormality aided diagnosis. Abnormal granules persisted in neutrophils in tissue culture, suggesting metabolic error intrinsic to the leukocytes. Normal eosinophil granules, originally absent, tended first to appear only in tissue culture. Autopsy tissues showed multiple deficiencies of arylsulfatases A, B, and C. Recent chemical analyses of brain showed increased dermatan sulfate; this, along with deficient sulfatase B activity, also occurs in mucopolysaccharidosis type VI. Sulfatase B deficiency may imply an O-sulfatase deficiency which could explain increased O-sulfated molecules in MSD-MLD. Family pedigree was consistent with autosomal recessive inheritance. Sulfatase A deficiency appears to be related to a qualitative change in sulfatase A enzyme itself. The same type of molecular error may also be present in sulfatases B and C. References 1. Austin J: Mental retardation: Metachromatic leucodystrophy , in Carter CH: Medical Aspects of Mental Retardation . Springfield, Ill, Charles C Thomas Publisher, 1965, pp 768-812. 2. Bischel M, Austin J, Kemeny H: Metachromatic leukodystrophy: VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966.Crossref 3. Rampini S, et al: Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstandiges Krankheitsbild (Mukosulfatidose) . Helv Paediatr Acta 25: 436-461, 1970. 4. Austin J: Observations in metachromatic leucoencephalopathy . Trans Am Neurol Assoc 83:149-152, 1958. 5. Austin J: Recent studies in the metachromatic and globoid forms of diffuse sclerosis , in Ultrastructure and Metabolism of the Nervous System . Association for Research in Nervous and Mental Disease, Research Publications. Baltimore, Williams & Wilkins Co, 1962, vol 40, pp 189-221. 6. Austin J, et al: A controlled study of enzymic activities in three human disorders of glycolipid metabolism . J Neurochem 10:805-816, 1963.Crossref 7. Austin J: Recent studies in the metachromatic and globoid body forms of diffuse sclerosis , in Folchi-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins, and the Leucodystrophies . Amsterdam, Elsevier Press Inc, 1963, pp 120-133. 8. Austin J, Armstrong D, Shearer L: Metachromatic form of diffuse cerebral sclerosis: V. The nature and significance of low sulfatase activity: A controlled study of brain, liver, and kidney in four patients with metachromatic leukodystrophy (MLD) . Arch Neurol 13:593-614, 1965.Crossref 9. Stumpf D, et al: Metachromatic leukodystrophy (MLD): X. Immunological studies of the abnormal sulfatase A . Arch Neurol 25:427-431, 1971.Crossref 10. Austin J: Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination . Neurology 7:415-426, 1957.Crossref 11. Austin J: Metachromatic form of cerebral sclerosis: II. Diagnosis during life by isolation of metachromatic lipids from urine . Neurology 7: 716-723, 1957.Crossref 12. Austin J: Some recent findings in leukodystrophies and in gargoylism, in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses. New York, Pergamon Press Inc, 1966, pp 359-387. 13. Thieffry S, Lyon G, Maroteaux P: Leucodystrophie metachromatique (sulfatidose) et mucopolysaccharidose associees chez un meme malade . Rev Neurol 114:193-200, 1966. 14. Murphy J, et al: A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 67-110. 15. Moser H, et al: Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leukodystrophy associated with multiple sulfatase deficiencies, in Volk B, Aronson S (eds): Sphingolipids, Sphingolipidoses and Allied Disorders , vol 19 of Advances in Experimental Medicine and Biology . New York, Plenum Press Inc, 1972, pp 429-450. 16. Mossakowski M, Mathieson G, Cumings J: On the relationship of metachromatic leucodystrophy and amaurotic idiocy . Brain 84:585-604, 1961.Crossref 17. Luthy F, et al: Amaurotic idiocy with metachromatic change in the white matter, in Proceedings of the Fifth International Congress on Neuropathology, International Congress Series No. 100. Zurich, Switzerland, Excerpta Medica Foundation, 1965, p 125. 18. Alder A: Konstitutionell bedingte Granulationsveränderungen der Leukocyten und Knochenuveranderungen . Schweiz Med Wochenschr 80:1095-1098, 1950. 19. Bainton DF, Farquhar MG: Differences in enzyme content of azurophil and specific granules of polymorphonuclear leukocytes: I. Histochemical staining of bone marrow smears . J Cell Biol 39:286-298, 1968.Crossref 20. Bove KE: Histochemistry and ultrastructure of the Alder-Reilly anomaly, abstracted . Proc Am Assoc Pathol Bacteriol 50, 1971. 21. Hardin J, Spicer S: Ultrastructural localization of dialyzed iron-reactive mucosubstance in rabbit heterophils, basophils, and eosinophils . J Cell Biol 48:368-386, 1971.Crossref 22. Di Ferrante N, et al: Measurement of urinary glycosaminoglycans with quaternary ammonium salts: An extension of the method . Conn Tissue Res 1:93-101, 1972.Crossref 23. Austin J, Yokoi S: A combined technique of histochemistry, microdissection, and thinlayer chromatography applicable to lipid storage diseases . Folia Psychiatr Neurol Jap 21:31-39, 1967. 24. Suzuki D: Neurochemical aspects of mucopolysaccharides , in Lajtha A (ed): Handbook of Neurochemistry . New York, Plenum Press Inc, 1972, vol 7, pp 17-32. 25. Bischel M, et al: Separation and identification of acid polysaccharides by thin-layer chromatography . J Chromatogr 21:40-45, 1966.Crossref 26. Austin J: Some mechanisms of disease in metachromatic leukodystrophy , in Goldensohn E. Appel S, Shy G (eds): The Cellular and Molecular Basis of Neurologic Disease . Philadelphia, Lea & Febiger, 1973, chap 47. 27. Stumpf D, Austin J: Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leukodystrophy , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 203-221. 28. Stumpf D, Austin J: Sulfatase B deficiency in the Maroteaux-Lamy syndrome (muccopolysaccharidosis-VI) . Trans Am Neurol Assoc , to be published. 29. Dorfman A, Matalon R: The mucopolysaccharidoses , in Stanbury J, Wyngaarden J, Fredrickson D (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill Book Co Inc, 1972, pp 1218-1272. 30. Roy A, Trudingen P: The Biochemistry of Inorganic Compounds of Sulfur . London, Cambridge University Press, 1970. 31. French A, Warren J: Properties of steroid sulphatase and arylsulfatase activities of human placenta . Biochem J 105:233-241, 1967. 32. Brady R, et al: Sphingolipid hydrolases in brain tissue of patients with generalized gangliosidosis . Biochim Biophys Acta 210:193-195, 1970.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Studies in Metachromatic Leukodystrophy: XII. Multiple Sulfatase Deficiency

Archives of Neurology , Volume 28 (4) – Apr 1, 1973

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Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1973.00490220066010
Publisher site
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Abstract

Abstract Multiple sulfatase deficiency form of metachromatic leukodystrophy (MSD-MLD) occurred in a young boy. In blood smears, leukocyte Alder-Reilly granulation abnormality aided diagnosis. Abnormal granules persisted in neutrophils in tissue culture, suggesting metabolic error intrinsic to the leukocytes. Normal eosinophil granules, originally absent, tended first to appear only in tissue culture. Autopsy tissues showed multiple deficiencies of arylsulfatases A, B, and C. Recent chemical analyses of brain showed increased dermatan sulfate; this, along with deficient sulfatase B activity, also occurs in mucopolysaccharidosis type VI. Sulfatase B deficiency may imply an O-sulfatase deficiency which could explain increased O-sulfated molecules in MSD-MLD. Family pedigree was consistent with autosomal recessive inheritance. Sulfatase A deficiency appears to be related to a qualitative change in sulfatase A enzyme itself. The same type of molecular error may also be present in sulfatases B and C. References 1. Austin J: Mental retardation: Metachromatic leucodystrophy , in Carter CH: Medical Aspects of Mental Retardation . Springfield, Ill, Charles C Thomas Publisher, 1965, pp 768-812. 2. Bischel M, Austin J, Kemeny H: Metachromatic leukodystrophy: VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966.Crossref 3. Rampini S, et al: Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstandiges Krankheitsbild (Mukosulfatidose) . Helv Paediatr Acta 25: 436-461, 1970. 4. Austin J: Observations in metachromatic leucoencephalopathy . Trans Am Neurol Assoc 83:149-152, 1958. 5. Austin J: Recent studies in the metachromatic and globoid forms of diffuse sclerosis , in Ultrastructure and Metabolism of the Nervous System . Association for Research in Nervous and Mental Disease, Research Publications. Baltimore, Williams & Wilkins Co, 1962, vol 40, pp 189-221. 6. Austin J, et al: A controlled study of enzymic activities in three human disorders of glycolipid metabolism . J Neurochem 10:805-816, 1963.Crossref 7. Austin J: Recent studies in the metachromatic and globoid body forms of diffuse sclerosis , in Folchi-Pi J, Bauer H (eds): Brain Lipids and Lipoproteins, and the Leucodystrophies . Amsterdam, Elsevier Press Inc, 1963, pp 120-133. 8. Austin J, Armstrong D, Shearer L: Metachromatic form of diffuse cerebral sclerosis: V. The nature and significance of low sulfatase activity: A controlled study of brain, liver, and kidney in four patients with metachromatic leukodystrophy (MLD) . Arch Neurol 13:593-614, 1965.Crossref 9. Stumpf D, et al: Metachromatic leukodystrophy (MLD): X. Immunological studies of the abnormal sulfatase A . Arch Neurol 25:427-431, 1971.Crossref 10. Austin J: Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination . Neurology 7:415-426, 1957.Crossref 11. Austin J: Metachromatic form of cerebral sclerosis: II. Diagnosis during life by isolation of metachromatic lipids from urine . Neurology 7: 716-723, 1957.Crossref 12. Austin J: Some recent findings in leukodystrophies and in gargoylism, in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses. New York, Pergamon Press Inc, 1966, pp 359-387. 13. Thieffry S, Lyon G, Maroteaux P: Leucodystrophie metachromatique (sulfatidose) et mucopolysaccharidose associees chez un meme malade . Rev Neurol 114:193-200, 1966. 14. Murphy J, et al: A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 67-110. 15. Moser H, et al: Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leukodystrophy associated with multiple sulfatase deficiencies, in Volk B, Aronson S (eds): Sphingolipids, Sphingolipidoses and Allied Disorders , vol 19 of Advances in Experimental Medicine and Biology . New York, Plenum Press Inc, 1972, pp 429-450. 16. Mossakowski M, Mathieson G, Cumings J: On the relationship of metachromatic leucodystrophy and amaurotic idiocy . Brain 84:585-604, 1961.Crossref 17. Luthy F, et al: Amaurotic idiocy with metachromatic change in the white matter, in Proceedings of the Fifth International Congress on Neuropathology, International Congress Series No. 100. Zurich, Switzerland, Excerpta Medica Foundation, 1965, p 125. 18. Alder A: Konstitutionell bedingte Granulationsveränderungen der Leukocyten und Knochenuveranderungen . Schweiz Med Wochenschr 80:1095-1098, 1950. 19. Bainton DF, Farquhar MG: Differences in enzyme content of azurophil and specific granules of polymorphonuclear leukocytes: I. Histochemical staining of bone marrow smears . J Cell Biol 39:286-298, 1968.Crossref 20. Bove KE: Histochemistry and ultrastructure of the Alder-Reilly anomaly, abstracted . Proc Am Assoc Pathol Bacteriol 50, 1971. 21. Hardin J, Spicer S: Ultrastructural localization of dialyzed iron-reactive mucosubstance in rabbit heterophils, basophils, and eosinophils . J Cell Biol 48:368-386, 1971.Crossref 22. Di Ferrante N, et al: Measurement of urinary glycosaminoglycans with quaternary ammonium salts: An extension of the method . Conn Tissue Res 1:93-101, 1972.Crossref 23. Austin J, Yokoi S: A combined technique of histochemistry, microdissection, and thinlayer chromatography applicable to lipid storage diseases . Folia Psychiatr Neurol Jap 21:31-39, 1967. 24. Suzuki D: Neurochemical aspects of mucopolysaccharides , in Lajtha A (ed): Handbook of Neurochemistry . New York, Plenum Press Inc, 1972, vol 7, pp 17-32. 25. Bischel M, et al: Separation and identification of acid polysaccharides by thin-layer chromatography . J Chromatogr 21:40-45, 1966.Crossref 26. Austin J: Some mechanisms of disease in metachromatic leukodystrophy , in Goldensohn E. Appel S, Shy G (eds): The Cellular and Molecular Basis of Neurologic Disease . Philadelphia, Lea & Febiger, 1973, chap 47. 27. Stumpf D, Austin J: Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leukodystrophy , in Bernsohn J, Grossman H (eds): Lipid Storage Diseases: Enzymatic Defects and Clinical Implications . New York, Academic Press Inc, 1971, pp 203-221. 28. Stumpf D, Austin J: Sulfatase B deficiency in the Maroteaux-Lamy syndrome (muccopolysaccharidosis-VI) . Trans Am Neurol Assoc , to be published. 29. Dorfman A, Matalon R: The mucopolysaccharidoses , in Stanbury J, Wyngaarden J, Fredrickson D (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill Book Co Inc, 1972, pp 1218-1272. 30. Roy A, Trudingen P: The Biochemistry of Inorganic Compounds of Sulfur . London, Cambridge University Press, 1970. 31. French A, Warren J: Properties of steroid sulphatase and arylsulfatase activities of human placenta . Biochem J 105:233-241, 1967. 32. Brady R, et al: Sphingolipid hydrolases in brain tissue of patients with generalized gangliosidosis . Biochim Biophys Acta 210:193-195, 1970.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Apr 1, 1973

References

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