Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane
components, ganglioside GM2, its derivative GA2, the glycolipid
globoside in visceral tissues
and some oligosaccharides. Accumulation of these metabolites leads to a
progressive destruction of the central nervous system and eventually to
death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease,
another genetic disorder that disrupts beta-hexosaminidases A and S.
There are three subsets of Sandhoff disease based on when first symptoms
appear: classic infantile, juvenile and adult late onset.
I saw this amazing photo on the http://sandhoffdisease.webs.com/ webpage:
A father in Australia wrote a blog about his daughter's fight with Sandhoff. You can read it here.
Sandoff Disease is just one of 7,000 rare diseases, most without cures
and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.