769651
Description
Flashcards by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312
about 12 years ago
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| Question | Answer |
| Definition | A lack of function in one or more lysosomal enzymes |
| Gouchers Disease- Inheritence | AR |
| Gouchers Disease- Problem | Lipases don't function, lipid turnover decreases, lipids build up and lysosome explodes |
| Gouchers Disease- Symptoms | Decreased bone density, increased spleen density, bone marrow is replaced by infiltrate |
| Tay-Sachs Disease- Inheritence | AR |
| Tay-Sachs Disease- Mutation | Beta-Hexasaminidase A, which turns over ceramides in neurones |
| Tay-Sachs Disease- Problem | Ceramides build up, lysosome ruptures, neuron dies |
| Tay-Sachs Disease- Symptoms (Vary Depending on Age Of Onset) | Increase startle response, brain damage, blindness, decreased motor skills |
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