Sialidosis;
Mucolipidosis I

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.

Inherited metabolic disease; Lysosomal storage disease; Nervous system disease

NEU1; lysosomal sialidase [HSA:4758] [KO:K01186]

N-Acetylneuraminic acid (Sialic acid) [CPD:C00270]

PMID:18708002

Heese BA

Current strategies in the management of lysosomal storage diseases.

Semin Pediatr Neurol 15:119-26 (2008)

PMID:14517945

Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV

Molecular pathology of NEU1 gene in sialidosis.

Hum Mutat 22:343-52 (2003)

PMID:8985184

Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

Genes Dev 10:3156-69 (1996)

PMID:16712870

Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.

J Neurol Sci 247:65-9 (2006)

PMID:19568825

Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

J Neurol 256:1911-5 (2009)