Sandhoff disease
MIM.268800 5q13
Definition: Sandhoff disease, also called Hexosaminidase A and B deficiency, is an autosomal recessive lipid storage disease that causes progressive destruction of nerve cells in the brain and spinal cord.
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides (GM2-gangliosidosis), particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (MIM.272800).
Sandhoff disease is caused by mutation in the alpha (HEXA) or beta (HEXB) subunit of hexosaminidase (MIM.606873).
It is clinically indistinguishable from Tay-Sachs disease, but affects two hexosaminidase enzymes.
See also
sphingolipidoses
- GM2 gangliosidoses
- Tay-Sachs disease (MIM.272800) (15q23-q24)
- Tay-Sachs AB variant (MIM.272750) (5q31.3-q33.1)
glycolipids
- glycosphingolipid (ceramide and oligosaccharide)
- gangliosides