KEGG   DISEASE: H00142Help
Entry
H00142                      Disease                                

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 disease; Lysosomal storage disease; Nervous system disease
BRITE hierarchy
Pathway
Other glycan degradation
Sphingolipid metabolism
Lysosome
Gene
NEU1; lysosomal sialidase [HSA:4758] [KO:K01186]
Marker
N-Acetylneuraminic acid (Sialic acid) [CPD:C00270]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
Reference
  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)
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)
Reference
  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)
Reference
  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)

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