The topic Hexosaminidase A and B Deficiency you are seeking is a synonym, or alternative name, or is closely related to the medical condition Sandhoff Disease.
- Sandhoff Disease is a rare, inherited disorder (autosomal recessive) that occurs due to an enzyme deficiency. Young children are affected the most by this disorder
- Enzymes are proteins in the body that allow specific biochemical reactions to occur. During a biochemical reaction, the enzymes act on a particular substrate (a substance) and it results in the production of a particular product (substratum)
- Sandhoff Disease is a disease categorized as a lysosomal storage disorder (LSD)
- Lysosomes are cellular components present inside the cytoplasm of cells
- In lysosomal storage disorders, certain enzymes that should be present within the lysosomes are absent (or deficient). This results in the accumulation of a particular substrate
- The substrate in Sandhoff Disease are GM2 ganglioside and globoside (glycosphingolipids)
- The excess substrate thus accumulated, affects the function of the cell, and the cell eventually dies, leading to the death of tissues and manifestation of the disorder
There are several different types of LSD. One among them is a group of disorders called GM2 gangliosidoses (singular - gangliosidosis). The 3 disorders present in this group are:
- Tay-Sachs disease, where there is a deficiency of enzyme β-hexosaminidase A
- Sandhoff Disease, where there is deficiency of enzymes β-hexosaminidase A and β-hexosaminidase B
- GM2 gangliosidosis variant AB, occurring due to deficiency of GM2 activator protein
- Sandhoff Disease is a progressive condition primarily affecting the central nervous system. It has been reported in certain regions and in certain populations
- Presently, there is no curative treatment available for this condition. The prognosis of Sandhoff disease is not favorable; in children, death usually occurs by age 3
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