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Phenylketonuria PKU

ody odor.(Clarke) The age of onset for these symptoms is approximately two to three months after birth. Treatment that is started after developmental damage has already occurred will only prevent further damage from happening and will help take care of the odor, rash and restlessness. Fortunately, detection of the condition shortly after birth, through the use of a routine blood screening procedure, which replaced the “wet diaper” test in 1964, has become standard practice in every state and Canadian Province since 1991. The blood test screens for phe levels in the blood plasma. When a baby has a high level of phe, confirmatory tests are preformed during a 3 week period, a diagnosis is established and diet treatment begins as soon as possible. Prenatal screening is rare and expensive because the PAH enzyme is only found in the liver it is not available in amniotic fluid, however skin cells may be examined by checking for mutations in the DNA.(Clarke) Even though placing the baby on a phenylalanine-restricted diet with in the first few weeks of life, and maintaining good diet control thereafter during developmental years is effective in preventing symptoms, PKU can still cause problems if diet is not maintained into adulthood. This is especially true for women with PKU. It is important for women to maintain the medical diet during their childbearing years because of the harmful effects that high levels of phe can have on the unborn child of a PKU mother. Maternal PKU effects offspring with conditions such as mental retardation, small brain size, congenital heart disease, low birth weight and spontaneous abortion.(Mange 347) Studies are still inconclusive in identifying whether preconception treatment of mothers with PKU have produced offspring with average physical and intellectual skills. This is because the children in this extensive study are not yet old enough to be adequately screened.There are 5 types of iden...

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