6: Treatment of Genetic Disease Flashcards
For example, in the tetrahydrobiopterin deficiencies, supplementing the diet with BH4 is very beneficial. This is called ______.
For example, in the tetrahydrobiopterin deficiencies, supplementing the diet with BH4 is very beneficial. This is called Replacement (add something back that is missing).
Another option is taking advantage of alternate pathways to divert excess substrate from a defective pathway in a process called _____. This is an example of a defect in the urea pathway where the block prevents degradation of NH3 to urea which can be eliminated from the body. NH3 will accumulate which can be toxic. Diet is a partial solution, but does not solve the entire problem. It was found that administering sodium benzoate will push the excess ammonia to combine with glycine, and this is converted to hippurate which can be excreted in the urine.
Another option is taking advantage of alternate pathways to divert excess substrate from a defective pathway in a process called diversion. This is an example of a defect in the urea pathway where the block prevents degradation of NH3 to urea which can be eliminated from the body. NH3 will accumulate which can be toxic. Diet is a partial solution, but does not solve the entire problem. It was found that administering sodium benzoate will push the excess ammonia to combine with glycine, and this is converted to hippurate which can be excreted in the urine.
Certain pathways respond to inhibitors which act to slow synthesis and reduce the accumulation of toxic substances. This is called _____.
In other cases, substances that build up in the body can simply be removed when the level is too high. In hereditary hemochromatosis, there is a build up of iron in the tissues of the body. Long term excessive iron deposition leads to degeneration of organs and, ultimately, organ failure and death. The fact that iron is transported by blood offered a solution. If regular phlebotomy is performed, excess iron can be removed from the body and the overall concentration of iron can be maintained at a tolerable level. This is called _____.
Certain pathways respond to inhibitors which act to slow synthesis and reduce the accumulation of toxic substances. This is called inhibition.
In other cases, substances that build up in the body can simply be removed when the level is too high. In hereditary hemochromatosis, there is a build up of iron in the tissues of the body. Long term excessive iron deposition leads to degeneration of organs and, ultimately, organ failure and death. The fact that iron is transported by blood offered a solution. If regular phlebotomy is performed, excess iron can be removed from the body and the overall concentration of iron can be maintained at a tolerable level. This is called depletion.
