Dictionary > Sandhoff disease

Sandhoff disease

Definition
noun
A type of lysosomal storage disease that is often caused by a deficiency in beta-hexosaminidases A and B, resulting in the accumulation of glucoside and ganglioside GM2, and thereby leads to a progressive destruction of the central nervous system
Supplement
Sandhoff disease is one of the many types of lysosomal storage disease. Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. In Sahdnoff disease, there is an accumulation of glucoside and ganglioside GM2 due to the deficiency in functional beta-hexosaminidases A and B.
Sandhoff disease is often associated with a mutation in HEX B gene on chromosome 5q. In humans, this gene codes for the two forms of beta-hexoaminidase. Sandhoff disease may be inherited in an autosomal recessive pattern. This means that the symptoms associated with Sandhoff disease would manifest in an individual carrying two copies of the defective gene. The most severe symptoms are seen beginning at 6 months of age. The infantile form of the disease includes symptoms such as progressive muscle deterioration, muscle weakness, blindness, deafness, respiratory problems, seizures, mental retardation, cherry red spots in retina, and hepatosplenomegaly. The other two forms of the disease, i.e. juvenile and adult forms, have less and milder symptoms.
Sandhoff disease is similar to Tay-Sachs disease. However, the former rarely affects individuals of Jewish descent. It is named after Konrad Sandhoff, a contemporary German biochemist who described it.
Synonym(s):

  • hexosaminidase A and B deficiency
  • Sandhoff–Jatzkewitz disease

See also:

  • lysosomal storage disease


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