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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Cathepsin A deficiency of
  • Goldberg syndrome
  • GSL
  • Lysosomal protective protein deficiency of
  • Neuraminidase deficiency with beta-galactosidase deficiency
More Names
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Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene.[1][2] It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia.[3] There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.[1][4]
Last updated: 5/16/2011


  1. Galactosialidosis. Genetics Home Reference (GHR). 2009; Accessed 5/16/2011.
  2. Maire I, Froissart R. Galactosialidosis. Orphanet. 2005; Accessed 5/16/2011.
  3. Kruer MC. Lysosomal Storage Disease. eMedicine. 2008; Accessed 5/16/2011.
  4. Galactosialidosis. Hide & Seek Foundation for Lysosomal Disease Research. Accessed 5/16/2011.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Galactosialidosis. Click on the link to view a sample search on this topic.

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