| H00142 | |
| H number | H00142 |
| Name | Sialidosis; Mucolipidosis I |
| Description | 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | NEU1 [HSA:4758] [KO:K01186] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.21 ICD-10: E77.1 MeSH: D009081 OMIM: 256550 |
| Reference | PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:14517945 AUTHORS Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV TITLE Molecular pathology of NEU1 gene in sialidosis. JOURNAL Hum Mutat 22:343-52 (2003) DOI:10.1002/humu.10268 PMID:8985184 AUTHORS Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A TITLE Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. JOURNAL Genes Dev 10:3156-69 (1996) DOI:10.1101/gad.10.24.3156 PMID:16712870 AUTHORS Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS TITLE First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. JOURNAL J Neurol Sci 247:65-9 (2006) DOI:10.1016/j.jns.2006.03.013 PMID:19568825 AUTHORS 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 TITLE Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. JOURNAL J Neurol 256:1911-5 (2009) DOI:10.1007/s00415-009-5213-4 |