Galactosialidosis

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Galactosialidosis
Classification and external resources
OMIM 256540
DiseasesDB 33441

Galactosialidosis is a lysosomal disease.[1]

It is associated with cathepsin A.[2]

[edit] References

  1. ^ Koike K, Hamaguchi T, Kitamura H, Imasawa T, Joh K (May 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 (June 1996). "Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families". Pediatr. Res. 39 (6): 1067–71. PMID 8725271. 
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Inborn error of carbohydrate metabolism - Lysosomal storage diseases: glycoprotein metabolic pathology - Glycoproteinosis, including mucolipidosis (E77, 272.7)
Post-translational modification
of lysosomal enzymes
Glycoprotein degradation
Other
Mucolipidosis type IV - Salla disease - Galactosialidosis
see also enzymes