Phenylketonuria (PKU) – Symptoms, inheritance and treatment


fenilcetonuria ( ul keetone Yu Fen – REE -AH or PKU) is a hereditary metabolic disorder in which the body can not completely destroy the protein (amino acid) phenylalanine this is due to the phenylalanine hydroxylase enzyme is insufficient.Because of this, phenylalanine accumulates in the bodys cells and causes damage to the nervous system.

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phenylketonuria is a disease that can be treated can be detected by a simple blood test .In the United States, all newborns should be screened for PKU in the metabolic and genetic screening composition performed on all newborns .All newborns in the United Kingdom, Canada , Australia , New Zealand , Japan , Western and most of Eastern Europe as well as in many other countries around the world , are also tested .

( PKU screening in preterm infants is different and more difficult for several reasons . )

Each year10,000 15 .000 babies are born with this disease in the United States andPhenylketonuria it occurs in both men and women of all ethnic groups ( although it is more common in people of Northern European descent and Native American ,)


The child is born with PKU will normally be developed during the first months. If symptoms is not treated are beginning to develop in the tri-six months and may include :