THE TAY-SACHS DISEASE FIBROBLAST MODEL: FAILURE TO RESPOND TO EXOGENOUS HEXOSAMINIDASE A

[摘要] In vitro studies with Tay-Sachs disease (TSD) fibroblast cultures treated with β-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.

[学科分类] 儿科学