FETAL DIAGNOSIS OF GALACTOSIALIDOSIS (PROTECTIVE PROTEIN CATHEPSIN-A DEFICIENCY)

The fetal diagnosis of galactosialidosis is performed by measuring car boxypeptidase (cathepsin A) activity in cultured villous cells and by immunofluorescence analysis with an antibody against an oligopeptide c orresponding to the N-terminal domain of the human mature protective p rotein. Neither carboxypeptidase activity nor immunofluorescence was d etected in cultured villous cells derived from an at-risk fetus or in cultured fibroblasts derived from the sister with galactosialidosis. N euraminidase and beta-galactosidase activities were also confirmed to be deficient or low. A direct assay system for protective protein/cath epsin A is useful for the accurate prenatal diagnosis of galactosialid osis. (C) 1997 Elsevier Science B.V.