Chemical Pathology of Tay-Sachs Disease in the Fetus
Prenatal diagnosis of Tay-Sachs disease not only offers a means for effective pregnancy management, but it also provides a unique opportunity to study the disease early in fetal development (1). This paper will describe some of the chemical features of three cases of fetal Tay-Sachs disease (2). It will also include some preliminary studies on enzyme replacement with cultured fetal Tay-Sachs disease fibroblasts.
KeywordsSialic Acid Amniotic Fluid Prenatal Diagnosis Phosphatidic Acid Chemical Pathology
Unable to display preview. Download preview PDF.
- 2.Schneck, L., Adachi, M. and Volk, B.W.: Fetal aspects of Tay-Sachs disease. Pediatrics. In press.Google Scholar
- 6.Gottschalk, A.: The Chemistry and Biology of Sialic Acids and Related Substances. Cambridge, University Press, 1960, p. 30.Google Scholar
- 8.Schneck, L., Feldman, N., Brooks, S., Amsterdam, D. and Volk, B.W.: Ganglioside metabolism in cultured Tay-Sachs disease fibroblasts. To be published.Google Scholar