Wednesday, May 6, 2009

phenylketonuria

Phenylketonuria or PKU is autosomal recessive disorder that is caused by mutations in the PAH gene.PKU was dicovered by a Norwegian physician in 1934. Today about one in every 10,000-15,000 newborns have this disease. This condition causes someones body to not handle normal levels of phenyladine which is found in meat, dairy nuts etc.The symptoms of this disease are fair skin and hair, light sensitivity, must oder and eczema. If PKU is left untreated a child will have severe mental retardation. When a child is diagnosed with PKU he/she needs to eat low levels if phenyladine. This means that for the rest of his or her life they would need to not eat meat, chicken, fish, nuts or dairy products. Also, because of lack of phenyladine the patient would need to take supplements and pills daily to live a normal healthy life.