KEGG   DISEASE: H00276Help
Entry
H00276                      Disease                                

Name
Galactosialidosis
Description
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase and alpha-neuraminidase.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
BRITE hierarchy
Pathway
Lysosome
Sphingolipid metabolism
Gene
CTSA; cathepsin A [HSA:5476] [KO:K13289]
GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
NEU1; lysosomal sialidase [HSA:4758] [KO:K01186]
Marker
urinary sialic acid-rich oligosaccharides
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Darin N, Kyllerman M, Hard AL, Nordborg C, Mansson JE
  Title
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.
  Journal
Eur J Paediatr Neurol (2008)
Reference
PMID:1883197
  Authors
Neufeld EF
  Title
Lysosomal storage diseases.
  Journal
Annu Rev Biochem 60:257-80 (1991)

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