Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1973 Jun;10(2):144–153. doi: 10.1136/jmg.10.2.144

Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus

M d'A Crawfurd 1,2,3,4,5, M F Dean 1,2,3,4,5, D M Hunt 1,2,3,4,5,*, D R Johnson 1,2,3,4,5, R R MacDonald 1,2,3,4,5, H Muir 1,2,3,4,5, E A Payling Wright 1,2,3,4,5,†, C R Payling Wright 1,2,3,4,5,†
PMCID: PMC1013005  PMID: 4268390

Abstract

Type I mucopolysaccharidosis was diagnosed in a fetus by assay of the glycosaminoglycans of the amniotic liquor. Results are presented of biochemical and ultrastructural studies on the 18-week abortus. The evidence suggests that the liver is more severely affected than the central nervous system at this stage of gestation, and this finding agrees with the recent demonstration of the underlying enzyme defect of this disorder, with the corollary that many biochemical abnormalities previously noted in gargoylism must be pleiotropic effects of the mutant genotype.

Full text

PDF
144

Images in this article

145Image
on p.145
145Image
on p.145
148Image
on p.148
149Image
on p.149
150Image
on p.150
151Image
on p.151

Selected References

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

  1. ALEU F. P., TERRY R. D., ZELLWEGER H. ELECTRON MICROSCOPY OF TWO CEREBRAL BIOPSIES IN GARGOYLISM. J Neuropathol Exp Neurol. 1965 Apr;24:304–317. doi: 10.1097/00005072-196504000-00010. [DOI] [PubMed] [Google Scholar]
  2. BITTER T., MUIR H. M. A modified uronic acid carbazole reaction. Anal Biochem. 1962 Oct;4:330–334. doi: 10.1016/0003-2697(62)90095-7. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. Brock D. J., Gordon H., Seligman S., Lobo E. de H. Antenatal detection of Hurler's syndrome. Lancet. 1971 Dec 11;2(7737):1324–1325. doi: 10.1016/s0140-6736(71)90654-4. [DOI] [PubMed] [Google Scholar]
  5. Callahan W. P., Lorincz A. E. Hepatic ultrastructure in the Hurler syndrome. Am J Pathol. 1966 Feb;48(2):277–298. [PMC free article] [PubMed] [Google Scholar]
  6. Dean M. F., Muir H., Ewins R. J. Hurler's, Hunter's and Morquio's syndromes. A biochemical study in the light of current views of the underlying defects. Biochem J. 1971 Aug;123(5):883–894. doi: 10.1042/bj1230883. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Fratantoni J. C., Neufeld E. F., Uhlendorf B. W., Jacobson C. B. Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med. 1969 Mar 27;280(13):686–688. doi: 10.1056/NEJM196903272801303. [DOI] [PubMed] [Google Scholar]
  8. Knecht J., Cifonelli J. A., Dorfman A. Structural studies on heparitin sulfate of normal and Hurler tissues. J Biol Chem. 1967 Oct 25;242(20):4652–4661. [PubMed] [Google Scholar]
  9. LEDEEN R., SALSMAN K., GONATAS J., TAGHAVY A. STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I. J Neuropathol Exp Neurol. 1965 Apr;24:341–351. doi: 10.1097/00005072-196504000-00012. [DOI] [PubMed] [Google Scholar]
  10. Leroy J. G., Crocker A. C. Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients. Am J Dis Child. 1966 Dec;112(6):518–530. doi: 10.1001/archpedi.1966.02090150062003. [DOI] [PubMed] [Google Scholar]
  11. MacBrinn M., Okada S., Woollacott M., Patel V., Ho M. W., Tappel A. L., O'Brien J. S. Beta-galactosidase deficiency in the hurler syndrome. N Engl J Med. 1969 Aug 14;281(7):338–343. doi: 10.1056/NEJM196908142810702. [DOI] [PubMed] [Google Scholar]
  12. Matalon R., Dorfman A. Hurler's syndrome, an -L-iduronidase deficiency. Biochem Biophys Res Commun. 1972 May 26;47(4):959–964. doi: 10.1016/0006-291x(72)90586-4. [DOI] [PubMed] [Google Scholar]
  13. Matalon R., Dorfman A., Nadler H. L. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1972 Apr 8;1(7754):798–799. doi: 10.1016/s0140-6736(72)90558-2. [DOI] [PubMed] [Google Scholar]
  14. Matalon R., Dorfman A., Nadler H. L., Jacobson C. B. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1970 Jan 10;1(7637):83–84. doi: 10.1016/s0140-6736(70)91869-6. [DOI] [PubMed] [Google Scholar]
  15. McKusick V. A., Howell R. R., Hussels I. E., Neufeld E. F., Stevenson R. E. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993–996. doi: 10.1016/s0140-6736(72)91159-2. [DOI] [PubMed] [Google Scholar]
  16. Milunsky A., Littlefield J. W., Kanfer J. N., Kolodny E. H., Shih V. E., Atkins L. Prenatal genetic diagnosis (second of three parts). N Engl J Med. 1970 Dec 24;283(26):1441–1447. doi: 10.1056/NEJM197012242832605. [DOI] [PubMed] [Google Scholar]
  17. Milunsky A., Littlefield J. W., Kanfer J. N., Kolodny E. H., Shih V. E., Atkins L. Prenatal genetic diagnosis. I. N Engl J Med. 1970 Dec 17;283(25):1370–1381. doi: 10.1056/NEJM197012172832505. [DOI] [PubMed] [Google Scholar]
  18. Neufeld E. F., Fratantoni J. C. Inborn errors of mucopolysaccharide metabolism. Science. 1970 Jul 10;169(3941):141–146. doi: 10.1126/science.169.3941.141. [DOI] [PubMed] [Google Scholar]
  19. Ockerman P. A., Hultberg B. Fractionation of j-methylumbelliferyl-beta-galactosidase activities in liver in gargoylism. Scand J Clin Lab Invest. 1968;22(3):199–202. doi: 10.3109/00365516809166488. [DOI] [PubMed] [Google Scholar]
  20. Olsson I. Chondroitin sulfate proteolycan of human leukocytes. Biochim Biophys Acta. 1969 Apr 1;177(2):241–249. doi: 10.1016/0304-4165(69)90133-0. [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. Van Hoof F., Hers H. G. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem. 1968 Dec;7(1):34–44. doi: 10.1111/j.1432-1033.1968.tb19570.x. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES