Prenatal diagnosis of galactosialidosis.
The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and beta-galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for alpha-neuraminidase deficiency.
D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology / Q000201:enzymology; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000032:analysis / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000032:analysis; D010920:Placenta / Q000032:analysis / Q000166:cytology / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D001616:beta-Galactosidase / Q000172:deficiency*
D009844:Oligosaccharides; D005696:Galactosidases; D009439:Neuraminidase; D001616:beta-Galactosidase