Prenatal diagnosis of galactosialidosis

A. C. Sewell, B. F. Pontz

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish
Pages (from-to)151-155
Number of pages5
JournalPrenatal Diagnosis
Volume8
Issue number2
DOIs
StatePublished - Feb 1988
Externally publishedYes

Keywords

  • Amniotic fluid
  • Galactosialidosis
  • Neuraminidase
  • Oligosaccharides

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