Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
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.
Loren
David J
DJ
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Campos
Yvan
Y
d'Azzo
Alessandra
A
Wyble
Lance
L
Grange
Dorothy K
DK
Gilbert-Barness
Enid
E
White
Frances V
FV
Hamvas
Aaron
A
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*
D018389:Codon, Nonsense; D022821:RNA Splice Sites; C486385:NEU1 protein, human; D009439:Neuraminidase