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 [ edit ]
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).
This in turn leads to a secondary deficiency of [3 ] beta-galactosidase (GLB1) and neuraminidase 1 (NEU1).
There are three distinct CTSA isoforms.
References [ edit ]
^ 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 [ edit ]