Other Names for this Disease
- Goldberg syndrome
- Neuraminidase deficiency with beta-galactosidase deficiency
- Lysosomal protective protein deficiency of
- Protective protein/Cathepsin A deficiency
- Cathepsin A deficiency of
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autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. 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. 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.Galactosialidosis is an
Last updated: 5/16/2011
- Galactosialidosis. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/galactosialidosis. Accessed 5/16/2011.
- Maire I, Froissart R. Galactosialidosis. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=498&Disease_Disease_Search_diseaseGroup=Galactosialidosis&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Galactosialidosis&title=Galactosialidosis&search=D. Accessed 5/16/2011.
- Kruer MC. Lysosomal Storage Disease. eMedicine. 2008; http://emedicine.medscape.com/article/1182830-overview#showall. Accessed 5/16/2011.
- Galactosialidosis. Hide & Seek Foundation for Lysosomal Disease Research. http://www.hideandseek.org/index.php?option=com_content&task=view&id=121&Itemid=75. Accessed 5/16/2011.
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- Online Mendelian Inheritance in Man (OMIM) is a 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.