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 α-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.
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Acknowledgements
We thank Kim Detjen MSW at St. Louis Children's Hospital NICU for providing support to the family and care team. Supported by NIH DK52025, GM60950, Assisi Foundation of Memphis, the Cancer Center Support Grant CA21765, and the American Lebanese Syrian Associated Charities (ALSAC) (Ad’A & YC); NIH HL-65174 (AH). Ad’A holds an Endowed Chair in Genetics and Gene Therapy from the Jeweler Charity Fund.
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Loren, D., Campos, Y., d'Azzo, A. et al. Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase. J Perinatol 25, 491–494 (2005). https://doi.org/10.1038/sj.jp.7211335
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DOI: https://doi.org/10.1038/sj.jp.7211335