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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sandhoff disease


Other Names for this Disease

  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
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Overview

Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.[1][2] The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Other forms of Sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. These forms are very rare. Sandhoff disease is caused by mutations in the HEXB gene.[1] These mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.[2] Sandhoff disease is inherited in an autosomal recessive manner.[1] 
Last updated: 10/19/2011

References

  1. Sandhoff disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/sandhoff-disease. Accessed 10/19/2011.
  2. NINDS Sandhoff Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm. Accessed 10/19/2011.
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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 Sandhoff disease. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.