| Term | Definition |
|---|---|
| Hexosaminidase A | Tay-Sachs is caused by a mutation in the HEXA gene on chromosome 15. The HEXA gene codes for the alpha subunit of the hexosaminidase A enzyme which is necessary for breaking down GM2 gangliosides in nerve cells. When there is a mutation in the coding for alpha subunit of the hexosaminidase A it does not function properly and leads to an accumulation of GM2 which is toxic and eventually causes cell death. Sandhoff is characterized by loss of function of both the alpha and beta subunit of hexosaminidase A enzyme. For more information visit: http://ghr.nlm.nih.gov/gene=hexa
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| Hexosaminidase B | Sandhoff is caused by a mutation in the HEXB gene on chromosome 5. The HEXB gene codes for part of two essential nervous system enzymes: the beta subunit of hexosaminidase A and the beta subunit of hexosaminidase B. When there is a mutation in the coding for beta subunit of hexosaminidase A and the beta subunit of hexosaminidase B both enzymes do not function properly and lead to an accumulation of GM2 which is toxic and eventually causes cell death. Tay-Sachs is characterized by loss of function of only the alpha subunit of the hexosaminidase A enzyme. For more information: http://ghr.nlm.nih.gov/gene=hexb
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| Hypotonia | Decreased muscle tone, limpness.
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