Itoh K, Miharu N, Ohama K, Mizoguchi N, Sakura N, Sakuraba H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Clin Chim Acta. 1997 Oct 31;266(2):75-82. doi: 10.1016/s0009-8981(97)00141-1.
The fetal diagnosis of galactosialidosis is performed by measuring carboxypeptidase (cathepsin A) activity in cultured villous cells and by immunofluorescence analysis with an antibody against an oligopeptide corresponding to the N-terminal domain of the human mature protective protein. Neither carboxypeptidase activity nor immunofluorescence was detected in cultured villous cells derived from an at-risk fetus or in cultured fibroblasts derived from the sister with galactosialidosis. Neuraminidase and beta-galactosidase activities were also confirmed to be deficient or low. A direct assay system for protective protein/cathepsin A is useful for the accurate prenatal diagnosis of galactosialidosis.
