title: Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency).
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan. itou@rinshoken.or.jp
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: N
authors.initials: N
authors.lastname: Miharu
authors.forename: K
authors.initials: K
authors.lastname: Ohama
authors.forename: N
authors.initials: N
authors.lastname: Mizoguchi
authors.forename: N
authors.initials: N
authors.lastname: Sakura
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000906:Antibodies; D002268:Carboxypeptidases / Q000172:deficiency* / Q000276:immunology / Q000378:metabolism; D043402:Cathepsin A; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D005455:Fluorescent Antibody Technique; D005697:Galactosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D000906:Antibodies; D005697:Galactosides; D002268:Carboxypeptidases; C468629:CTSA protein, human; D043402:Cathepsin A