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Monozygotic Twins With Presumed Metachromatic Leukodystrophy: Activity of Arylsulfatase A in Serum of Patients and Family

Monozygotic Twins With Presumed Metachromatic Leukodystrophy: Activity of Arylsulfatase A in... Abstract • Arylsulfatase A (ASA) activity in urine and serum was assayed on two 21-monthold monozygotic twins with presumed metachromatic leukodystrophy (MLD), their parents, and kin. The patients showed a marked reduction in ASA activity in both urine and serum. The twins' parents and 11 kin, a total of 13 persons, were examined for ASA activity in serum, but it was not possible to delineate heterozygous carriers of MLD by the present study. The assay of ASA activity in serum promises to be useful for diagnosis of MLD. References 1. Hain RF, La Veck GD: Metachromatic leuko-encephalopathy . Pediatrics 22:1064-1073, 1958. 2. Ogawa K: Late infantile metachromatic leukodystrophy . Arch Neurol 4:418-429, 1961.Crossref 3. Allen RJ, McCusker JJ, Tourtellote WW: Metachromatic leukodystrophy: Clinical, histochemical and cerebrospinal fluid abnormalities . Pediatrics 30:629-638, 1962. 4. Nyberg-Hansen R: Metachromatic leukodystrophy: Two unusual cases of the late infantile form . Z Neurol 203:145-154, 1972. 5. Warner JO: Juvenile onset metachromatic leukodystrophy: Failure of response on a low vitamin A diet . Arch Dis Child 50:735-737, 1975.Crossref 6. Beratis NG, Aron AM, Hirschhorn K: Metachromatic leukodystrophy: Detection in serum . J Pediatr 83:824-827, 1973.Crossref 7. Singh J, Tavella D, Di Ferrante N: Measurements of arylsulfatases A and B in human serum . J Pediatr 86:574-576, 1975.Crossref 8. Matsukura T, Sato K, Terauchi H: A study on the winding direction of fingerprint pattern in twins . Shikoku Acta Med 12:414-419, 1958. 9. Matsukura T: Studies on the inheritance of fingerprints (report 3): On the inheritance of the quantity of papillary ridges . Shikoku Acta Med 3:108-119, 1952. 10. Baum H, Dodgson KS, Spencer B: The assay of arylsulfatase A and B in human urine . Clin Chim Acta 4:453-455, 1959.Crossref 11. Taniguchi N, Nanba I: Enzymatic abnormality of carrier state in metachromatic leukodystrophy . Clin Chim Acta 29:375-379, 1970.Crossref 12. Jatzkewitz H: Zwei Typen von Cerebrocid-Schwefelsäureestern als sog: "Prälipoide" und speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffusen Sklerose) . Z Physiol Chem 311:279-282, 1958.Crossref 13. Austin JH: Metachromatic sulfatides in cerebral white matter and kidney . Proc Soc Exp Biol Med 100:361-364, 1959.Crossref 14. 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 15. Austin J, Armstrong D, Shearer L, McAfee D: Metachromatic form of diffuse sclerosis: VI. A rapid test for the sulfate A deficiency in metachromatic leukodystrophy (MLD) urine . Arch Neurol 14:259-269, 1966.Crossref 16. Percy AL, Brady RO: Metachromatic leukodystrophy: Diagnosis with samples of venous blood . Science 161:594-595, 1968.Crossref 17. Porter MT, Fluharty AL, Kihara H: Metachromatic leukodystrophy: Arylsulfatase A deficiency in skin fibroblast cultures . Proc Natl Acad Sci USA 62:887-891, 1969.Crossref 18. Djialoszynski LM, Gniot-Szulzycka J: Some clinical aspects of arylsulfatase activity . Clin Chim Acta 15:381-386, 1967.Crossref 19. Melchior JC, Clausen J: Metachromatic leucodystrophy in early childhood: Treatment with a diet deficient in vitamin A . Acta Paediatr Scand 57:2-8, 1968.Crossref 20. Snyder RA, Brady RO: The use of white cells as a source of diagnostic material for lipid storage disease . Clin Chim Acta 25:331-338, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Monozygotic Twins With Presumed Metachromatic Leukodystrophy: Activity of Arylsulfatase A in Serum of Patients and Family

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1978.00500340065013
Publisher site
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Abstract

Abstract • Arylsulfatase A (ASA) activity in urine and serum was assayed on two 21-monthold monozygotic twins with presumed metachromatic leukodystrophy (MLD), their parents, and kin. The patients showed a marked reduction in ASA activity in both urine and serum. The twins' parents and 11 kin, a total of 13 persons, were examined for ASA activity in serum, but it was not possible to delineate heterozygous carriers of MLD by the present study. The assay of ASA activity in serum promises to be useful for diagnosis of MLD. References 1. Hain RF, La Veck GD: Metachromatic leuko-encephalopathy . Pediatrics 22:1064-1073, 1958. 2. Ogawa K: Late infantile metachromatic leukodystrophy . Arch Neurol 4:418-429, 1961.Crossref 3. Allen RJ, McCusker JJ, Tourtellote WW: Metachromatic leukodystrophy: Clinical, histochemical and cerebrospinal fluid abnormalities . Pediatrics 30:629-638, 1962. 4. Nyberg-Hansen R: Metachromatic leukodystrophy: Two unusual cases of the late infantile form . Z Neurol 203:145-154, 1972. 5. Warner JO: Juvenile onset metachromatic leukodystrophy: Failure of response on a low vitamin A diet . Arch Dis Child 50:735-737, 1975.Crossref 6. Beratis NG, Aron AM, Hirschhorn K: Metachromatic leukodystrophy: Detection in serum . J Pediatr 83:824-827, 1973.Crossref 7. Singh J, Tavella D, Di Ferrante N: Measurements of arylsulfatases A and B in human serum . J Pediatr 86:574-576, 1975.Crossref 8. Matsukura T, Sato K, Terauchi H: A study on the winding direction of fingerprint pattern in twins . Shikoku Acta Med 12:414-419, 1958. 9. Matsukura T: Studies on the inheritance of fingerprints (report 3): On the inheritance of the quantity of papillary ridges . Shikoku Acta Med 3:108-119, 1952. 10. Baum H, Dodgson KS, Spencer B: The assay of arylsulfatase A and B in human urine . Clin Chim Acta 4:453-455, 1959.Crossref 11. Taniguchi N, Nanba I: Enzymatic abnormality of carrier state in metachromatic leukodystrophy . Clin Chim Acta 29:375-379, 1970.Crossref 12. Jatzkewitz H: Zwei Typen von Cerebrocid-Schwefelsäureestern als sog: "Prälipoide" und speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffusen Sklerose) . Z Physiol Chem 311:279-282, 1958.Crossref 13. Austin JH: Metachromatic sulfatides in cerebral white matter and kidney . Proc Soc Exp Biol Med 100:361-364, 1959.Crossref 14. 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 15. Austin J, Armstrong D, Shearer L, McAfee D: Metachromatic form of diffuse sclerosis: VI. A rapid test for the sulfate A deficiency in metachromatic leukodystrophy (MLD) urine . Arch Neurol 14:259-269, 1966.Crossref 16. Percy AL, Brady RO: Metachromatic leukodystrophy: Diagnosis with samples of venous blood . Science 161:594-595, 1968.Crossref 17. Porter MT, Fluharty AL, Kihara H: Metachromatic leukodystrophy: Arylsulfatase A deficiency in skin fibroblast cultures . Proc Natl Acad Sci USA 62:887-891, 1969.Crossref 18. Djialoszynski LM, Gniot-Szulzycka J: Some clinical aspects of arylsulfatase activity . Clin Chim Acta 15:381-386, 1967.Crossref 19. Melchior JC, Clausen J: Metachromatic leucodystrophy in early childhood: Treatment with a diet deficient in vitamin A . Acta Paediatr Scand 57:2-8, 1968.Crossref 20. Snyder RA, Brady RO: The use of white cells as a source of diagnostic material for lipid storage disease . Clin Chim Acta 25:331-338, 1969.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Oct 1, 1978

References