KEGG   DISEASE: Galactosialidosis
Entry
H00276                      Disease                                
Name
Galactosialidosis;
Neuraminidase deficiency with beta-galactosidase deficiency
  Supergrp
Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]
Description
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase [DS:H00142].
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
     H00276  Galactosialidosis
Pathway
hsa04142  Lysosome
hsa04614  Renin-angiotensin system
Gene
CTSA [HSA:5476] [KO:K13289]
Other DBs
ICD-11: 5C56.21
MeSH: C536411
OMIM: 256540
Reference
PMID:19097920
  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 13:553-5 (2009)
DOI:10.1016/j.ejpn.2008.11.003
Reference
PMID:1883197
  Authors
Neufeld EF
  Title
Lysosomal storage diseases.
  Journal
Annu Rev Biochem 60:257-80 (1991)
DOI:10.1146/annurev.bi.60.070191.001353
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