Abstract
Summary
Ultrastructural and biochemical studies were performed on the brain and liver of a 21-week-old embryo obtained by a therapeutic abortion from a woman who had previously a child with Tay-Sachs disease. Similar studies were carried out on brain and liver of a 14-week-old infant afflicted with this disease. In both cases there was absence of hexosaminidase A activity in liver and brain, and increased amounts of GM2 ganglioside were found in cerebral tissue. Electron microscopically, it was possible to trace the evolution of the membranous cytoplasmic bodies from prenatal ill-defined finely granular cytoplasmic bodies to the membranous cytoplasmic bodies seen in the early postnatal stage of the disease. The study, furthermore, indicates that the in utero diagnosis of Tay-Sachs disease can be confirmed by morphological and biochemical studies on the fetus.
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