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Autosomal recessive - en.svg
Galactosialidosis is inherited in a autosomal recessive manner
Classification and external resources
Specialty endocrinology
ICD-10 E77.1
OMIM 256540
DiseasesDB 33441
Orphanet 351

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).[3] This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1).[citation needed]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.[4]



  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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
  4. ^ 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. 

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