Abstract
Abstract Amniocentesis at 14 weeks' gestation on a mother who had previously had an affected child demonstrated Type 1 GM1-gangliosidosis. β-galactosidase activity was absent in cell-free amniotic fluid (normal, 33.2 ± 16 nmoles methylumbelliferyl β-D-galactoside hydrolysed per milliliter per hour). The enzyme activity in extracts of cultured amniocytes was 1 per cent of that in normal cells. The pregnancy was terminated by hysterotomy at 17 weeks' gestation. Vacuolation and abnormal inclusions were seen by light and electron microscopy in epon-embedded sections from brain, liver, kidney and other organs. Typical zebra bodies werefound in cells of the dorsal-rootganglions. β-galactosidase activity was present but decreased in liver and brain from the affected fetus, whereas sphingomyelinase activity was increased two to six times that in controls.
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