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Prenatal Diagnosis of Metachromatic Leukodystrophy: A Diagnosis by Amniotic Fluid and Its Confirmation

Prenatal Diagnosis of Metachromatic Leukodystrophy: A Diagnosis by Amniotic Fluid and Its... Abstract • Late infantile metachromatic leukodystrophy (MLD) was successfully diagnosed in utero by demonstrating the absence of arylsulfatase-A in amniotic fluid using diethylaminoethyl-Sepharose column chromatography. Diagnosis by amniotic fluid using an ion-exchange column is more rapid and reproducible as compared with those reported previously. The diagnosis was confirmed by the absence of arylsulfatase-A in fetal brain, liver, and kidney tissues as well as by the marked accumulation of sulfatide in kidney. The kidney is the most appropriate organ for the demonstration of sulfatide accumulation in fetal tissues in MLD. References 1. Jatzkewitz H: Zwei Typen von Cerebrosid-Schwefelsäure-estern als sog: 'Pralipoide' und Speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffuse Sklerose) . Z Physiol Chem 1958;311:279-282.Crossref 2. Austin JH: Metachromatic sulfatides in cerebral white matter and kidney . Proc Exp Biol Med 1959;100:361-364.Crossref 3. 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 1965;13:593-614.Crossref 4. Mehl E, Jatzkewitz H: Evidence for the genetic block in metachromatic leukodystrophy (MLD) . Biochem Biophys Res Commun 1965;19:409-411.Crossref 5. Nadler HL, Gerbie AB: Role of amniocentesis in the intrauterine detection of genetic disorders . N Engl J Med 1970;282:596-599.Crossref 6. Van der Hagen CB, Borresen A-L, Molne K, et al: Metachromatic leukodystrophy: I. Prenatal detection of arylsulfatase A deficiency . Clin Genet 1973;4:256-259.Crossref 7. Borresen A-L, van der Hagen CB: Metachromatic leukodystrophy: II. Direct determination of arylsulfatase A activity in amniotic fluid . Clin Genet 1973;4:442-446.Crossref 8. Leroy JC, van Elsen AF, Martin JJ, et al: Infantile metachromatic leukodystrophy: Confirmation of a prenatal diagnosis . N Engl J Med 1973;288:1365-1369.Crossref 9. Wiesmann UN, Meier C, Spycher MA, et al: Prenatal metachromatic leukodystrophy . Helv Paediatr Acta 1975;30:31-42. 10. Harzer K, Zahn V, Stengel-Rutkowski S, et al: Pränatale Diagnose der metachromatischen Leukodystrophie . Dtsch Med Wochenschr 1975;100:951-953. 11. Rattazzi MC, Davidson RG: Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques . Pediatr Res 1977;11:1030-1035. 12. Eto Y, Numaguchi S, Tahara T, et al: Multiple sulfatase deficiency (mucosulfatidosis): Impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo . Eur J Pediatr 1980;135:85-89.Crossref 13. Fluharty AL, Stevens RL, Sanders DL, et al: Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts . Biochem Biophys Res Commun 1974;59:455-460.Crossref 14. Baum H, Dodgson KS, Spencer B: The assay of arylsulfatases A and B in human urine . Clin Chim Acta 1957;4:453-455.Crossref 15. Eto Y, Rampini S, Wiesmann UN, et al: Enzymatic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sufatase deficiencies: Arylsulfatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases . J Neurochem 1974;23:1161-1170.Crossref 16. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the Folin reagent . J Biol Chem 1951;193:265-275. 17. Folch J, Lees M, Stanley GHS: A simple method for the isolation and purification of total lipids from animal tissues . J Biol Chem 1957;226:497-509. 18. Eto Y, Suzuki K, Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): Isolation of myelin with normal glycolipid composition . J Lipid Res 1970;11:473-479. 19. Iwamori M, Nagai Y: A new chromatographic approach to the resolution of individual gangliosides . Biochim Biophys Acta 1978;528:257-267.Crossref 20. Suzuki K: The pattern of mammalian brain gangliosides: III. Regional and developmental differences . J Neurochem 1965;12:169-194. 21. Kihara H, Ho CK, Fluharty AL, et al: Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test . Pediatr Res 1980;14:224-227.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Prenatal Diagnosis of Metachromatic Leukodystrophy: A Diagnosis by Amniotic Fluid and Its Confirmation

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Publisher
American Medical Association
Copyright
Copyright © 1982 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1982.00510130031007
Publisher site
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Abstract

Abstract • Late infantile metachromatic leukodystrophy (MLD) was successfully diagnosed in utero by demonstrating the absence of arylsulfatase-A in amniotic fluid using diethylaminoethyl-Sepharose column chromatography. Diagnosis by amniotic fluid using an ion-exchange column is more rapid and reproducible as compared with those reported previously. The diagnosis was confirmed by the absence of arylsulfatase-A in fetal brain, liver, and kidney tissues as well as by the marked accumulation of sulfatide in kidney. The kidney is the most appropriate organ for the demonstration of sulfatide accumulation in fetal tissues in MLD. References 1. Jatzkewitz H: Zwei Typen von Cerebrosid-Schwefelsäure-estern als sog: 'Pralipoide' und Speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffuse Sklerose) . Z Physiol Chem 1958;311:279-282.Crossref 2. Austin JH: Metachromatic sulfatides in cerebral white matter and kidney . Proc Exp Biol Med 1959;100:361-364.Crossref 3. 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 1965;13:593-614.Crossref 4. Mehl E, Jatzkewitz H: Evidence for the genetic block in metachromatic leukodystrophy (MLD) . Biochem Biophys Res Commun 1965;19:409-411.Crossref 5. Nadler HL, Gerbie AB: Role of amniocentesis in the intrauterine detection of genetic disorders . N Engl J Med 1970;282:596-599.Crossref 6. Van der Hagen CB, Borresen A-L, Molne K, et al: Metachromatic leukodystrophy: I. Prenatal detection of arylsulfatase A deficiency . Clin Genet 1973;4:256-259.Crossref 7. Borresen A-L, van der Hagen CB: Metachromatic leukodystrophy: II. Direct determination of arylsulfatase A activity in amniotic fluid . Clin Genet 1973;4:442-446.Crossref 8. Leroy JC, van Elsen AF, Martin JJ, et al: Infantile metachromatic leukodystrophy: Confirmation of a prenatal diagnosis . N Engl J Med 1973;288:1365-1369.Crossref 9. Wiesmann UN, Meier C, Spycher MA, et al: Prenatal metachromatic leukodystrophy . Helv Paediatr Acta 1975;30:31-42. 10. Harzer K, Zahn V, Stengel-Rutkowski S, et al: Pränatale Diagnose der metachromatischen Leukodystrophie . Dtsch Med Wochenschr 1975;100:951-953. 11. Rattazzi MC, Davidson RG: Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques . Pediatr Res 1977;11:1030-1035. 12. Eto Y, Numaguchi S, Tahara T, et al: Multiple sulfatase deficiency (mucosulfatidosis): Impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo . Eur J Pediatr 1980;135:85-89.Crossref 13. Fluharty AL, Stevens RL, Sanders DL, et al: Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts . Biochem Biophys Res Commun 1974;59:455-460.Crossref 14. Baum H, Dodgson KS, Spencer B: The assay of arylsulfatases A and B in human urine . Clin Chim Acta 1957;4:453-455.Crossref 15. Eto Y, Rampini S, Wiesmann UN, et al: Enzymatic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sufatase deficiencies: Arylsulfatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases . J Neurochem 1974;23:1161-1170.Crossref 16. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the Folin reagent . J Biol Chem 1951;193:265-275. 17. Folch J, Lees M, Stanley GHS: A simple method for the isolation and purification of total lipids from animal tissues . J Biol Chem 1957;226:497-509. 18. Eto Y, Suzuki K, Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): Isolation of myelin with normal glycolipid composition . J Lipid Res 1970;11:473-479. 19. Iwamori M, Nagai Y: A new chromatographic approach to the resolution of individual gangliosides . Biochim Biophys Acta 1978;528:257-267.Crossref 20. Suzuki K: The pattern of mammalian brain gangliosides: III. Regional and developmental differences . J Neurochem 1965;12:169-194. 21. Kihara H, Ho CK, Fluharty AL, et al: Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test . Pediatr Res 1980;14:224-227.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jan 1, 1982

References