Parents of a 3-month-old bring the infant to the emergency room (ER) after a seizure has caused muscle rigidity. Both parents are of Jewish ancestry. For what genetic disease should this infant be screened?
a. Juvenile myoclonic epilepsy
b. Congenital encephalopathy
c. Tay-Sachs disease
d. PKU
ANS: C
Perhaps the best known of the lysosomal storage disorders is Tay-Sachs disease, an autosomal recessive disorder related to a deficiency of the enzyme hexosaminidase A (HEX A). Approxi-mately 80% of individuals diagnosed are of Jewish ancestry. Jewish ancestry is not necessarily associated with epilepsy, encephalopathy, or PKU.
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