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Phenylketonuria PKU

erences among groups in the population or whether environment influences frequency rates.(p346-47,Mange) However, evidence has surfaced that supports PKU being of Celtic origin. It is believed that it was brought from Ireland and Scotland, which have the highest frequency rates, with wives and slaves of the Vikings. Even though immense progress has been made since PKU’s discovery in 1934, there are still obstacles to overcome and more information to be learned. Current treatment of PKU is done with strict diet therapy, however other approaches are being studied. A plant enzyme called phenylalanine ammonia-lyase has been studied over the years with mice and seems to be a promising addition to diet therapy because it has shown to lower phe levels in mice by 50 percent after seven days.(Bickel,20) Another possibility to cure PKU is liver transplantation. Even though liver disease is not a characteristic of PKU and not a usual treatment approach, a ten year old boy with PKU and unrelated liver disease had a liver transplant which in turn cured him of PKU.(Bickel, 22) 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.(Bickel,24) Unfortunately, methods for an effective gene transfer have yet to be found. However, with the continuous Research and studies that are being conducted the outlook for people with PKU is promising. ...

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