[Prenatal diagnosis of sialidosis, a defect of the lysosomal enzyme neuraminidase].
Sialidosis, a lysosomal storage disease, ranged as oligosaccharidosis, is a genetic enzyme defect with a significantly restricted survival rate of the child concerned. After the preceded birth of a child who died of sialidosis, we succeeded in the correct prenatal exclusion of the disease with the prediction of a heterocygotic carrier status by biochemical analysis of cultivated amnion cells. The growth of these cells as well as the postnatal examined fibroblasts was significantly reduced. The possibility of the prenatal diagnosis of sialidosis allowed a pregnancy following the birth of a diseased child.
Heyes
H
H
Frauenklinik, Johannes-Gutenberg-Universität Mainz.
Gehler
J
J
Töllner
U
U
Göltner
E
E
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics; D009439:Neuraminidase / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D009439:Neuraminidase
Pränatale Diagnostik der Sialidose, eines Defektes des lysosomalen Enzyms Neuraminidase.