European Journal of Pediatrics

, Volume 122, Issue 3, pp 201–206 | Cite as

Prenatal diagnosis of mucolipidosis II (I-cell disease)

  • J. Gehler
  • M. Cantz
  • M. Stoeckenius
  • J. Spranger
Article

Abstract

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

Key words

Prenatal diagnosis Mucolipidosis II Lysosomal enzymes Glycosaminoglycan accumulation 

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Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • J. Gehler
    • 1
    • 2
    • 3
  • M. Cantz
    • 1
    • 2
  • M. Stoeckenius
    • 1
    • 2
  • J. Spranger
    • 1
    • 2
  1. 1.Department of PediatricsUniversity of MainzMainz
  2. 2.General Hospital BarmbekHamburg
  3. 3.Universitäts-KinderklinikMainzFederal Republic of Germany

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