Prenatal diagnosis of galactosialidosis |
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| Authors: | Dr A C Sewell B F Pontz |
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| Institution: | Department of Paediatrics, University Children's Hospital, D-6500 Mainz, F.R.G. |
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| Abstract: | The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β-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 a-neuraminidase deficiency. |
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| Keywords: | Galactosialidosis Neuraminidase Oligosaccharides Amniotic fluid |
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