Galactosialidosis
From Infogalactic: the planetary knowledge core
| Galactosialidosis | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E77.1 |
| OMIM | 256540 |
| DiseasesDB | 33441 |
| Patient UK | Galactosialidosis |
Galactosialidosis is a lysosomal storage disease.[1]
This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described.
Molecular biology
It is associated with cathepsin A.[2]
This disease is due to mutations in the CTSA gene which encodes the protective protein/cathepsin A (PPCA).[3] This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1).
There are three distinct CTSA isoforms.
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, D Azzo A, Morrone A (2013) Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis 8(1):114
External links
- Neuraminidase deficiency with beta-galactosidase deficiency at NIH's Office of Rare Diseases
- Hide & Seek Foundation for Lysosomal Disease Research
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