Sandhoff's disease


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Sandhoff's disease

 [sand´hofz]
a variant of tay-sachs disease not restricted to particular ethnic groups and marked by a progressively more rapid course; it is due to a defect in the enzymes hexosaminidase A and B.
References in periodicals archive ?
(1,5) In Sandhoff's disease, total hexosaminidase activity is reduced to less than 2 - 3% of normal, unlike Tay Sachs, where total hexosaminidase activity is preserved due to functional [beta]-hexosaminidase B activity.
Sandhoff's disease is characterised by the accumulation of N-acetylhexosamine-containing oligosaccharides, both within glycosphingolipids and as free oligosaccharides, both of which contain N-acetyl moieties.
Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O).