KEGG DISEASE: Sialidosis

DISEASE: Sialidosis

Entry

H00142                      Disease

Name

Sialidosis;
Mucolipidosis I

Supergrp

Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]
Progressive myoclonic epilepsy [DS:H00810]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00142  Sialidosis

Pathway

hsa04142

Lysosome

hsa00511

Other glycan degradation

hsa00600

Sphingolipid metabolism

Gene

NEU1 [HSA:4758] [KO:K01186]

Other DBs

ICD-11:

5C56.21

MeSH:

C537366

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

Reference

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

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   OMIM (1)   
All databases (1)   

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