Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency)

Clinica Chimica Acta; International Journal of Clinical Chemistry
K ItohHitoshi Sakuraba

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.

References

Jun 1, 1991·Jinrui idengaku zasshi. The Japanese journal of human genetics·K ItohY Suzuki
Nov 15, 1990·Biochemical and Biophysical Research Communications·R KaseY Suzuki
Feb 1, 1988·Prenatal Diagnosis·A C Sewell, B F Pontz
May 1, 1986·The Journal of Cell Biology·T H StevensR Schekman
Aug 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·A D'AzzoH Galjaard
Nov 30, 1994·Biochemical and Biophysical Research Communications·A SatakeY Suzuki
Jun 1, 1993·The Journal of Clinical Investigation·M ShimmotoY Suzuki

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Citations

Apr 9, 2008·Brain & Development·Naoko MatsumotoEiji Nanba
May 20, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Masaharu KotaniHitoshi Sakuraba

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