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

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.

• Authors: David J Loren, Yvan Campos, Alessandra d'Azzo, Lance Wyble, Dorothy K Grange, Enid Gilbert-Barness, Frances V White, Aaron Hamvas
• Journal: Journal of perinatology : official journal of the California Perinatal Association (J Perinatol) Vol. 25 Issue 7 Pg. 491-4 (Jul 2005) ISSN: 0743-8346 [Print] United States
• PMID: 15908988 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

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