GM1 gangliosidosis, type 2 is a familial disorder of sphingolipid metabolism characterized by progressive and unrelenting neurologic deterioration leading to death within the first decade of life. Amniotic fluid cells obtained early in the second trimester of a pregnancy at risk for this disease were shown to be deficient in β-galactosidase activity.

On the basis of these results, the parents elected to terminate the pregnancy.

Examination of the fetal tissues revealed marked deficiency of α-galactosidase activity, increased cerebral GM1 ganglioside and abnormal hepatic lysosomes confirming the diagnosis of GM1 gangliosidosis, type 2.

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