Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase

J Perinatol. 2005 Jul;25(7):491-4. doi: 10.1038/sj.jp.7211335.

Abstract

Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal alpha-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Codon, Nonsense / genetics*
  • Fatal Outcome
  • Humans
  • Hydrops Fetalis / etiology*
  • Infant, Newborn
  • Male
  • Mucolipidoses / complications*
  • Mucolipidoses / genetics*
  • Neuraminidase / genetics*
  • RNA Splice Sites / genetics*

Substances

  • Codon, Nonsense
  • RNA Splice Sites
  • NEU1 protein, human
  • Neuraminidase