DEFINITIVE PRENATAL DIAGNOSIS FOR TYPE III GLYCOGEN STORAGE DISEASE

摘要: Prenatal diagnosis for type III glycogen storage disease was performed by using (1) immunoblot analysis with a polyclonal antibody prepared against purified porcine-muscle debranching enzyme and (2) qualitative assay debranching-enzyme activity. Cultured amniotic fluid cells from three pregnancies (three families in which the proband had absence of debrancher protein) were subjected to analysis. Two unaffected one affected fetus predicted. In addition, cultured nine (eight families) screened based on persistence polysaccharide that has structure approaching phosphorylase limit dextrin when exposed glucose-free medium. This predicted six fetuses. All predictions either method confirmed postnatally except spontaneously aborted fetus. Our data indicate definitive can be made prenatally these methods.