Skip to main content
NCBI home page
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1975 Sep 20;113(6):507–511.

Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

J A Lowden, N Rudd, E Cutz, T A Doran
PMCID: PMC1956752  PMID: 808260

Abstract

In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler's syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.

Full text

PDF
507

Images in this article

510FIG. 1
on p.510

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BAUM H., DODGSON K. S., SPENCER B. The assay of arylsulphatases A and B in human urine. Clin Chim Acta. 1959 May;4(3):453–455. doi: 10.1016/0009-8981(59)90119-6. [DOI] [PubMed] [Google Scholar]
  2. Bach G., Friedman R., Weissmann B., Neufeld E. F. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048–2051. doi: 10.1073/pnas.69.8.2048. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Brady R. O. Inborn errors of lipid metabolism. Adv Enzymol Relat Areas Mol Biol. 1973;38:293–315. doi: 10.1002/9780470122839.ch6. [DOI] [PubMed] [Google Scholar]
  4. Brady R. O., Pentchev P. G., Gal A. E., Hibbert S. R., Dekaban A. S. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med. 1974 Nov 7;291(19):989–993. doi: 10.1056/NEJM197411072911901. [DOI] [PubMed] [Google Scholar]
  5. Brady R. O., Tallman J. F., Johnson W. G., Gal A. E., Leahy W. R., Quirk J. M., Dekaban A. S. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med. 1973 Jul 5;289(1):9–14. doi: 10.1056/NEJM197307052890103. [DOI] [PubMed] [Google Scholar]
  6. Crawfurd M., Dean M. F., Hunt D. M., Johnson D. R., MacDonald R. R., Muir H., Wright E. A., Wright C. R. Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus. J Med Genet. 1973 Jun;10(2):144–153. doi: 10.1136/jmg.10.2.144. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Cutz E., Lowden J. A., Conen P. E. Ultrastructural demonstration of neuronal storage in fetal Tay-Sachs disease. J Neurol Sci. 1974 Feb;21(2):197–202. doi: 10.1016/0022-510x(74)90071-9. [DOI] [PubMed] [Google Scholar]
  8. Doran T. A., Rudd N. L., Gardner H. A., Lowden J. A., Benzie R. J., Liedgren S. I. The antenatal diagnosis of genetic disease. Am J Obstet Gynecol. 1974 Feb 1;118(3):314–321. doi: 10.1016/s0002-9378(16)33785-1. [DOI] [PubMed] [Google Scholar]
  9. Epstein C. J., Brady R. O., Schneider E. L., Bradley R. M., Shapiro D. In utero diagnosis of Niemann-Pick disease. Am J Hum Genet. 1971 Sep;23(5):533–535. [PMC free article] [PubMed] [Google Scholar]
  10. Fluharty A. L., Scott M. L., Porter M. T., Kihara H., Wilson M. G., Towner J. W. Acid -glucosidase in amniotic fluid. Biochem Med. 1973 Feb;7(1):39–51. doi: 10.1016/0006-2944(73)90097-5. [DOI] [PubMed] [Google Scholar]
  11. Galjaard H., Niermeijer M. F., Hahnemann N., Mohr J., Sorensen S. A. An example of rapid prenatal diagnosis of Fabry's disease using microtechniques. Clin Genet. 1974;5(4):368–377. doi: 10.1111/j.1399-0004.1974.tb01708.x. [DOI] [PubMed] [Google Scholar]
  12. Harzer K. Erste Erfahrungen bei der pränatalen Diagnose der Tay-Sachssehen Erkrankung durch isoelektrische Fokussierung der Hexosaminidase A aus Amnionflüssigkeit. Klin Wochenschr. 1974 Feb 1;52(3):145–147. doi: 10.1007/BF01620754. [DOI] [PubMed] [Google Scholar]
  13. Huijing F., Warren R. J., McLeod A. G. Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease). Clin Chim Acta. 1973 Mar 30;44(3):453–455. doi: 10.1016/0009-8981(73)90092-2. [DOI] [PubMed] [Google Scholar]
  14. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  15. Lie S. O., Schofield B. H., Taylor H. A., Jr, Doty S. B. Structure and function of the lysosomes of human fibroblasts in culture: dependence on medium pH. Pediatr Res. 1973 Jan;7(1):13–19. doi: 10.1203/00006450-197301000-00003. [DOI] [PubMed] [Google Scholar]
  16. Lowden J. A., Cutz E., Conen P. E., Rudd N., Doran T. A. Prenatal diagnosis of G M1 -gangliosidosis. N Engl J Med. 1973 Feb 1;288(5):225–228. doi: 10.1056/NEJM197302012880502. [DOI] [PubMed] [Google Scholar]
  17. Lowden J. A., Zuker S., Wilensky A. J., Skomorowski M. A. Screening for carriers of Tay-Sachs disease: A community project. Can Med Assoc J. 1974 Aug 3;111(3):229–233. [PMC free article] [PubMed] [Google Scholar]
  18. Milunsky A., Littlefield J. W., Kanvfer J. N., Kolodny E. H., Shih V. E., Atkins L. Prenatal genetic diagnosis. 3. N Engl J Med. 1970 Dec 31;283(27):1498–1504. doi: 10.1056/NEJM197012312832705. [DOI] [PubMed] [Google Scholar]
  19. O'Brien J. S., Okada S., Ho M. W., Fillerup D. L., Veath M. L., Adams K. Ganglioside storage diseases. Fed Proc. 1971 May-Jun;30(3):956–969. [PubMed] [Google Scholar]
  20. Okada S., O'Brien J. S. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. doi: 10.1126/science.165.3894.698. [DOI] [PubMed] [Google Scholar]
  21. Schneck L., Valenti C., Amsterdam D., Friedland J., Adachi M., Volk B. W. Prenatal diagnosis of Tay-Sachs disease. Lancet. 1970 Mar 21;1(7647):582–584. doi: 10.1016/s0140-6736(70)91624-7. [DOI] [PubMed] [Google Scholar]
  22. Schneider P. B., Kennedy E. P. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J Lipid Res. 1967 May;8(3):202–209. [PubMed] [Google Scholar]
  23. Scriver C. R., Neal J. L., Saginur R., Clow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J. 1973 May 5;108(9):1111–1115. [PMC free article] [PubMed] [Google Scholar]
  24. Suzuki K., Schneider E. L., Epstein C. J. In utero diagnosis of globoid cell leukodystrophy (Krabb's disease). Biochem Biophys Res Commun. 1971 Dec 3;45(5):1363–1366. doi: 10.1016/0006-291x(71)90170-7. [DOI] [PubMed] [Google Scholar]
  25. Wiesmann U. N., Lightbody J., Vassella F., Herschkowitz N. N. Multiple lysosomal deficiency due to enzyme leakage? N Engl J Med. 1971 Jan 14;284(2):109–110. doi: 10.1056/NEJM197101142840221. [DOI] [PubMed] [Google Scholar]
  26. van der Hagen C. B., Borresen A. L., Molne K., Oftedal G., Bjoro K., Berg K. Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency. Clin Genet. 1973;4(3):256–259. [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES