PEDIATRICS Vol. 52 No. 2 August 1973, pp. 221-226
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THE TAY-SACHS DISEASE FIBROBLAST MODEL: FAILURE TO RESPOND TO EXOGENOUS HEXOSAMINIDASE A

Larry Schneck M.D.1, Daniel Amsterdam Ph.D.1, Steven E. Brooks M.S.1, Arthur L. Rosenthal Ph.D.1, and Bruno W. Volk M.D.1

1 Department of Neurology and the Birth Defects Center of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Brooklyn, New York

In vitro studies with Tay-Sachs disease (TSD) fibroblast cultures treated with beta-D-N-acetylhexosaminidase A (Hex A) did not reveal any detectable incorporation of the enzyme into cultured cells as measured by activity against the fluorogenic substrate or intracellular radioactivity of the 125I-labeled enzyme.

Futhermore, there was no demonstrable alteration of 14C-labeled GM2 (TSD) ganglioside in treated cells. It was concluded that parenteral administration of this enzyme to affected infants is not clinically justifiable.

Submitted on November 8, 1972
Accepted on April 4, 1973