Prenatal Mucopolysaccharidosis II (Hunter): A Pathogenetic Study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1980-05

AUTHORS

Ulrich N Wiesmann, Max A Spycher, Claus Meier, Inge Liebaers, Norbert Herschkowitz

ABSTRACT

A prenatal diagnosis of Mucopolysaccharidosis II (M. Hunter) was made early in a pregnancy at risk in a family with one affected child. An affected fetus was diagnosed on the basis of an abnormal incorporation and degradation of 35SO4 in 35SO4-labeled mucopolysaccharides in cultured amniotic cells. Dermatan sulfate and heparin sulfate concentrations in the supernatant of the amniotic fluid were high. In the aborted fetus, the diagnosis could be confirmed by 35SO4 incorporation studies in the cultured fibroblasts and in cultured brain cells as well as by the deficiency of the specific enzyme activity (iduronide sulfate sulfatase) in the organs of the fetus. beta-Galactosidase was in the low normal range in liver and spleen but significantly reduced in brain. Under electron microscopy, the mesenchymal cells of liver and spleen showed lysosomal storage of material, presumably mucopolysaccharides, in excess of normal. In the neurons of the spinal ganglia and spinal cord, "Zebra bodies" in statu nascendi were observed. More... »

PAGES

pr1980190

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198005000-00008

DOI

http://dx.doi.org/10.1203/00006450-198005000-00008

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1012821656

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6770331


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