Galactosialidosis
| Galactosialidosis | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E77.1 |
| OMIM | 256540 |
| DiseasesDB | 33441 |
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
- ↑ Koike K, Hamaguchi T, Kitamura H, Imasawa T, Joh K (2008). "Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy". Pathol. Int. 58 (5): 295–9. doi:10.1111/j.1440-1827.2008.02226.x. PMID 18429828.
- ↑ Kleijer WJ, Geilen GC, Janse HC, et al. (1996). "Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families". Pediatr. Res. 39 (6): 1067–71. doi:10.1203/00006450-199606000-00022. PMID 8725271.
- ↑ 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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