Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Galactosialidosis


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


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

References

  1. Galactosialidosis. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/galactosialidosis. Accessed 5/16/2011.
  2. Maire I, Froissart R. Galactosialidosis. Orphanet. 2005; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=351. Accessed 5/16/2011.
  3. Kruer MC. Lysosomal Storage Disease. eMedicine. 2008; http://emedicine.medscape.com/article/1182830-overview#showall. Accessed 5/16/2011.
  4. 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Galactosialidosis have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • 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.

Insurance Issues