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Sialidosis

Definition:

Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the mild form with late-onset and type 2 for the severe form with infantile onset.

References:

[1]. A Caciotti, et al. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol. 2009 Nov;256(11):1911-5. [Content Brief]

[2]. Bryce A Heese, et al. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008 Sep;15(3):119-26. [Content Brief]

[3]. Chiung-Mei Chen, et al. First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. J Neurol Sci. 2006 Aug 15;247(1):65-9. [Content Brief]

[4]. E Bonten, et al. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev. 1996 Dec 15;10(24):3156-69. [Content Brief]

[5]. Volkan Seyrantepe, et al. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003 Nov;22(5):343-52. [Content Brief]

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