Galactosialidosis is a lysosomal storage disease.This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described.
It is associated with cathepsin A.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 beta-galactosidase (GLB1) and neuraminidase 1 (NEU1). There are three distinct CTSA isoforms.
A prenatal diagnosis was made by Kleijer et al. in 1979 by measuring beta-galactosidase and neuraminidase activities in cultured amniotic fluid cells.
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- ^ 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
- ^ Kleijer, W. J.; Hoogeveen, A.; Verheijen, F. W.; Niermeijer, M. F.; Galjaard, H.; O'Brien, J. S.; Warner, T. G. (July 1979). "Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency". Clinical Genetics. 16 (1): 60–61. ISSN 0009-9163. PMID 477017.