KEGG   DISEASE: GalactosialidosisHelp
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 disease; Lysosomal storage disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00276  Galactosialidosis
  Lysosomal storage diseases
   H00276  Galactosialidosis
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
BRITE hierarchy
Pathway
hsa04142  Lysosome
Gene
CTSA; cathepsin A [HSA:5476] [KO:K13289]
Other DBs
ICD-11: 5C56.21
ICD-10: E75.1
MeSH: C536411
OMIM: 256540
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 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

» Japanese version

DBGET integrated database retrieval system