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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fucosidosis


Other Names for this Disease

  • Alpha-l-fucosidase deficiency
  • Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
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

Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. In severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. Fucosidosis is caused by mutations in the FUCA1 gene. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[1] The only currently available treatment is bone marrow transplant, the results of which have been variable and need further study.[2]
Last updated: 11/19/2013

References

  1. Fucosidosis. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/fucosidosis. Accessed 11/19/2013.
  2. Froissart R, Maire I. Fucosidosis. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=349. Accessed 11/19/2013.
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Basic Information

In Depth Information

  • 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 Fucosidosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Alpha-l-fucosidase deficiency
  • Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.