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Phenylketonuria

be fixed or helped with a diet since the baby does not even have the condition. These problems would be permanent. The affected mother could also have a spontaneous abortion because of the disease. If a woman with PKU were to have an unplanned pregnancy as long as she was able to bring down her PHE to a safe level within the first eight weeks of her pregnancy her chances of having a healthy baby are still good.Even though immense progress has been made since the discovery of PKU in 1934, there are still obstacles to overcome and more information to be learned. Current treatment, as discussed before, is best suited by means of a phenylalanine-free diet however other approaches are being studied that would eliminate this strict diet. A plant enzyme called phenylalanine ammonia-lyase has been studied over the years with mice and seems to be a promising addition to the diet therapy because it is shown to lower levels of phenylalanine by 50 percent in mice after only seven days. Research involving gene therapy is still underway. A gene clone-expressing human PAH and a PKU animal model, a mouse, have been developed because the mouse has a 90 percent homology with the human PAH gene. Unfortunately, methods for an effective gene transfer are yet to be found. Others are trying to develop a genetically engineered version of the missing enzyme which, when taken orally, can degrade phenylalanine in the digestive tract before it is absorbed into the body. This would allow PKU patients to relax their diet if not eliminate it completely. Research is also being conducted on the long-term outcome for children who were born from maternal PKU pregnancies so that these children can reach their full cognitive potential. With continuous research and studies, the outlook for patients with phenylketonuria is promising. ...

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