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Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, seizures as well as other problems.
Between 2 and 10 percent of all babies across the United States do not pass their first hearing screen, but very few of these babies have permanent hearing loss.
The test for PKU tests the babys ability to process phenyalanine which is found in protein and sweeteners and can accumulate in the blood and tissues of a baby with PKU resulting in brain damage. This can be prevented when placing babies with PKU on a early special diet.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited (genetic) condition that affects red blood cells. Red blood cells carry oxygen throughout your body. In babies with G6PD deficiency, red blood cells break down too quickly.
A positive or out-of-range result means that the babys screening exam did show signs that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby definitely has a medical condition.
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A PKU screening test is a blood test given to newborns one to three days after birth. PKU stands for phenylketonuria. It is a rare disorder that prevents the body from breaking down part of a protein called phenylalanine (Phe). Phe is in all foods that contain protein, such as milk, meats, and nuts.

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