Sandhoff Disease (definition)

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Sandhoff Disease

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Definition: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

See Also beta-N-Acetylhexosaminidases

Other names Hexosaminidase A and B Deficiency Disease; Gangliosidosis G(M2), Type II; G(M2) Gangliosidosis, Type II; beta-Hexosaminidase-beta-Subunit Deficiencies; beta Hexosaminidase beta Subunit Deficiency; Total Hexosaminidase Deficiencies; Sandhoffs Disease; Sandhoff Jatzkewitz Pilz Disease; Hexosaminidase Deficiency, Total; Hexosaminidase Deficiencies, Total; Disease, Sandhoff-Jatzkewitz-Pilz; Deficiency, beta-Hexosaminidase-beta-Subunit; Deficiency, Total Hexosaminidase; Deficiencies, beta-Hexosaminidase-beta-Subunit; Deficiencies, Total Hexosaminidase; beta-Hexosaminidase-beta-Subunit Deficiency; Total Hexosaminidase Deficiency; Sandhoff-Jatzkewitz-Pilz Disease; Sandhoff's Disease; Sandhoff Disease, Juvenile

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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