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Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues

Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues Abstract Sulfatase B activity was deficient in tissues from patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome; MPS VI). Liver, kidney, spleen, brain, and cultured fibroblasts all showed deficient activity. The sulfatase B deficiency was most evident in assays of pellet fractions. Sulfatase B activity was not reduced in the other mucopolysaccharidoses tested (types I, II, and III). The activities of control lysosomal enzymes (sulfatase A and acid phosphatase) were not reduced in MPS VI tissues. The evidence suggests that a sulfatase B deficiency may underlie the biochemical abnormalities responsible for the MaroteauxLamy syndrome. The findings also lend credence to the view that sulfatase B normally plays a catabolic role as an O-sulfatase in the pathways of sulfated mucopolysaccharide metabolism. The possibility that oligosaccharide chondroitin sulfate B (dermatan sulfate) is a substrate for sulfatase B remains to be critically tested. References 1. Maroteaux P, et al: Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B . Press Med 71:1849-1852, 1963. 2. McKusick VA, et al: The genetic mucopolysaccharidoses . Medicine 44:445-483, 1965.Crossref 3. Leroy JG, Crocker AC: Clinical definition of the Hurler-Hunter phenotypes: A review of 50 patients . Am J Dis Child 112:518-530, 1966.Crossref 4. Spranger JW, et al: Mucopolysaccharidosis: VI. Maroteaux-Lamy's disease . Helv Paediatr Acta 25:337-362, 1970. 5. Neuhauser EBD, et al: Arachnoid cysts in the Hurler-Hunter syndrome . Ann Radiol 11:453-469, 1968. 6. LeRoy JG, Crocker AC: Studies on the genetics of the Hurler-Hunter syndrome , in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press, 1966, pp 455-473. 7. Austin JH, 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 leucodystrophy (MLD) . Arch Neurol 13:593-614, 1965.Crossref 8. Stumpf D: Biochemical and Immunological Studies of Sulfatases in Normal and Metachromatic Leukodystrophy Patients, thesis. University of Michigan, Ann Arbor, University Microfilms, 1972. 9. Rattazzi MC, Marks JS, Davidson RG: Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy . Am J Hum Genet 25:310-316, 1973. 10. Milton RC: An extended table of critical values for the Mann-Whitney (Wilcoxin) two sample statistic . J Am Stat Assoc 59:925-934, 1964.Crossref 11. Dodgson KS: Sulfatases of glycosaminoglycans , in Jeanloz R (ed): The Amino Sugars . New York, Academic Press, 1966, vol 2B, pp 201-212. 12. Roy AB, Trudinger PA: The Biochemistry of Inorganic Compounds of Sulfur . Cambridge, England, Cambridge University Press, 1970, pp 176-180. 13. Dorfman A, Matalon R: The mucopolysaccharidoses , in Stanbury JB, Wyngaarden JB, Fredrickson DF (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972. 14. Farooqui AA, Bachhawat BK: The regional, age dependent variation and species differences of brain arylsulfatases . J Neurochem 18:635-646, 1971.Crossref 15. Matalon R, Dorfman A: The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture . Proc Nat Acad Sci 60:170-185, 1968.Crossref 16. Mahita T, Sandbom EB: Ultrastructural localization of arylsulfatase B in mitochondria of epithelial cells of the proximal convoluted tubules of the rat kidney . Experientia 27:187-189, 1971.Crossref 17. Allen E, Roy AB: The sulfatase of ox liver: XI. The isoelectric focusing of a purified preparation of sulfatase B . Biochim Biophys Acta 168:243-251, 1968.Crossref 18. Barton RW, Neufeld EF: A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) . J Pediatr 80:114-116, 1972.Crossref 19. Neufeld EF, Cantz MJ: Corrective factors for inborn errors of mucopolysaccharide metabolism . Ann NY Acad Sci 179:580-587, 1971.Crossref 20. DiFerrante NM, et al: Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndrome by plasma infusion . Proc Nat Acad Sci 68:303-307, 1971.Crossref 21. MacBrinn M, et al: Beta-galactosidase deficiency in the Hurler syndrome . N Engl J Med 281:338-343, 1969.Crossref 22. Ide H, Fishman WH: Dual localization of βglucuronidase and acid phosphatase in lysosomes and microsomes: II. Membrane associated enzymes . Histochemie 20:300-321, 1969.Crossref 23. Ganschow R, Paigen K: Separate genes determining the structure and intracellular location of hepatic glucuronidase . Proc Nat Acad Sci 58:938-945, 1967.Crossref 24. Paigen K: The effect of mutation on the intracellular location of β-glucuronidase . Exp Cell Res 25:286-301, 1961.Crossref 25. McKusick VA, et al: Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses . Lancet 1:993-996, 1972.Crossref 26. Bischel MD, Austin JH, Kemeny MD: Metachromatic leukodystrophy (MLD): VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966.Crossref 27. Austin JH: Metachromatic leukodystrophy: XII. Multiple sulfatase deficiency . Arch Neurol 28:258-264, 1973.Crossref 28. Suzuki K: Neurochemical aspects of mucopolysaccharidoses , in Lajtha A (ed): Handbook of Neurochemistry: Pathological Chemistry of the Nervous System . New York, Plenum Press, 1972, vol 7, pp 131-142. 29. Kresse H, Neufeld EF: The Sanfilippo type A corrective factor: Purification and mode of action . J Biol Chem 247:2164-2170, 1972. 30. O'Brien JS: Sanfilippo syndrome: Profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients . Proc Nat Acad Sci 69:1720-1722, 1972.Crossref 31. Patel V, Tappel AL, O'Brien JS: Hyaluronidase and sulfatase deficiency in Hurler's syndrome . Biochem Med 3:447-457, 1970.Crossref 32. Fususho K, Vetrella M, Latta E: Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharoidosis and cystinosis . Z Kinderheilkd 110:324-331, 1971.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues

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Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1973.02110190597003
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Abstract

Abstract Sulfatase B activity was deficient in tissues from patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome; MPS VI). Liver, kidney, spleen, brain, and cultured fibroblasts all showed deficient activity. The sulfatase B deficiency was most evident in assays of pellet fractions. Sulfatase B activity was not reduced in the other mucopolysaccharidoses tested (types I, II, and III). The activities of control lysosomal enzymes (sulfatase A and acid phosphatase) were not reduced in MPS VI tissues. The evidence suggests that a sulfatase B deficiency may underlie the biochemical abnormalities responsible for the MaroteauxLamy syndrome. The findings also lend credence to the view that sulfatase B normally plays a catabolic role as an O-sulfatase in the pathways of sulfated mucopolysaccharide metabolism. The possibility that oligosaccharide chondroitin sulfate B (dermatan sulfate) is a substrate for sulfatase B remains to be critically tested. References 1. Maroteaux P, et al: Une nouvelle dysostose avec elimination urinaire de chondroitine sulfate B . Press Med 71:1849-1852, 1963. 2. McKusick VA, et al: The genetic mucopolysaccharidoses . Medicine 44:445-483, 1965.Crossref 3. Leroy JG, Crocker AC: Clinical definition of the Hurler-Hunter phenotypes: A review of 50 patients . Am J Dis Child 112:518-530, 1966.Crossref 4. Spranger JW, et al: Mucopolysaccharidosis: VI. Maroteaux-Lamy's disease . Helv Paediatr Acta 25:337-362, 1970. 5. Neuhauser EBD, et al: Arachnoid cysts in the Hurler-Hunter syndrome . Ann Radiol 11:453-469, 1968. 6. LeRoy JG, Crocker AC: Studies on the genetics of the Hurler-Hunter syndrome , in Aronson S, Volk B (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press, 1966, pp 455-473. 7. Austin JH, 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 leucodystrophy (MLD) . Arch Neurol 13:593-614, 1965.Crossref 8. Stumpf D: Biochemical and Immunological Studies of Sulfatases in Normal and Metachromatic Leukodystrophy Patients, thesis. University of Michigan, Ann Arbor, University Microfilms, 1972. 9. Rattazzi MC, Marks JS, Davidson RG: Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy . Am J Hum Genet 25:310-316, 1973. 10. Milton RC: An extended table of critical values for the Mann-Whitney (Wilcoxin) two sample statistic . J Am Stat Assoc 59:925-934, 1964.Crossref 11. Dodgson KS: Sulfatases of glycosaminoglycans , in Jeanloz R (ed): The Amino Sugars . New York, Academic Press, 1966, vol 2B, pp 201-212. 12. Roy AB, Trudinger PA: The Biochemistry of Inorganic Compounds of Sulfur . Cambridge, England, Cambridge University Press, 1970, pp 176-180. 13. Dorfman A, Matalon R: The mucopolysaccharidoses , in Stanbury JB, Wyngaarden JB, Fredrickson DF (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972. 14. Farooqui AA, Bachhawat BK: The regional, age dependent variation and species differences of brain arylsulfatases . J Neurochem 18:635-646, 1971.Crossref 15. Matalon R, Dorfman A: The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture . Proc Nat Acad Sci 60:170-185, 1968.Crossref 16. Mahita T, Sandbom EB: Ultrastructural localization of arylsulfatase B in mitochondria of epithelial cells of the proximal convoluted tubules of the rat kidney . Experientia 27:187-189, 1971.Crossref 17. Allen E, Roy AB: The sulfatase of ox liver: XI. The isoelectric focusing of a purified preparation of sulfatase B . Biochim Biophys Acta 168:243-251, 1968.Crossref 18. Barton RW, Neufeld EF: A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) . J Pediatr 80:114-116, 1972.Crossref 19. Neufeld EF, Cantz MJ: Corrective factors for inborn errors of mucopolysaccharide metabolism . Ann NY Acad Sci 179:580-587, 1971.Crossref 20. DiFerrante NM, et al: Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndrome by plasma infusion . Proc Nat Acad Sci 68:303-307, 1971.Crossref 21. MacBrinn M, et al: Beta-galactosidase deficiency in the Hurler syndrome . N Engl J Med 281:338-343, 1969.Crossref 22. Ide H, Fishman WH: Dual localization of βglucuronidase and acid phosphatase in lysosomes and microsomes: II. Membrane associated enzymes . Histochemie 20:300-321, 1969.Crossref 23. Ganschow R, Paigen K: Separate genes determining the structure and intracellular location of hepatic glucuronidase . Proc Nat Acad Sci 58:938-945, 1967.Crossref 24. Paigen K: The effect of mutation on the intracellular location of β-glucuronidase . Exp Cell Res 25:286-301, 1961.Crossref 25. McKusick VA, et al: Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses . Lancet 1:993-996, 1972.Crossref 26. Bischel MD, Austin JH, Kemeny MD: Metachromatic leukodystrophy (MLD): VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues . Arch Neurol 15:13-28, 1966.Crossref 27. Austin JH: Metachromatic leukodystrophy: XII. Multiple sulfatase deficiency . Arch Neurol 28:258-264, 1973.Crossref 28. Suzuki K: Neurochemical aspects of mucopolysaccharidoses , in Lajtha A (ed): Handbook of Neurochemistry: Pathological Chemistry of the Nervous System . New York, Plenum Press, 1972, vol 7, pp 131-142. 29. Kresse H, Neufeld EF: The Sanfilippo type A corrective factor: Purification and mode of action . J Biol Chem 247:2164-2170, 1972. 30. O'Brien JS: Sanfilippo syndrome: Profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients . Proc Nat Acad Sci 69:1720-1722, 1972.Crossref 31. Patel V, Tappel AL, O'Brien JS: Hyaluronidase and sulfatase deficiency in Hurler's syndrome . Biochem Med 3:447-457, 1970.Crossref 32. Fususho K, Vetrella M, Latta E: Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharoidosis and cystinosis . Z Kinderheilkd 110:324-331, 1971.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Dec 1, 1973

References