title: 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.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Loren
authors.forename: Yvan
authors.initials: Y
authors.lastname: Campos
authors.forename: Alessandra
authors.initials: A
authors.lastname: d'Azzo
authors.forename: Lance
authors.initials: L
authors.lastname: Wyble
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.forename: Enid
authors.initials: E
authors.lastname: Gilbert-Barness
authors.forename: Frances V
authors.initials: FV
authors.lastname: White
authors.forename: Aaron
authors.initials: A
authors.lastname: Hamvas
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000235:genetics*; D009439:Neuraminidase / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D022821:RNA Splice Sites; C486385:NEU1 protein, human; D009439:Neuraminidase