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If routine newborn screening tests show that your baby may have PKU, your child's health care provider will want to start dietary treatment right away to prevent long-term problems.

Talk to your health care provider in these situations: In addition, maternal PKU can cause the child to have delayed development, intellectual disability and problems with behavior. But a child can have serious problems if the level of phenylalanine is high in the mother's blood during pregnancy. If women don't follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing baby.Įven women with less severe forms of PKU may place their unborn children at risk by not following the PKU diet.īabies born to women with high phenylalanine levels don't often inherit PKU. Women who have PKU and become pregnant are at risk of another form of the condition called maternal PKU. Regardless of the form, most infants, children and adults with the disorder still require a special PKU diet to prevent intellectual disability and other complications. In mild or moderate forms, the enzyme still has some function, so phenylalanine levels are not as high, resulting in a smaller risk of significant brain damage. This results in high levels of phenylalanine that can cause severe brain damage. The enzyme needed to break down phenylalanine is missing or severely reduced. The most severe form of the disorder is called classic PKU. Behavioral, emotional and social problems.Unusually small head size (microcephaly).

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Lighter skin, hair and eye color than family members, because phenylalanine can't transform into melanin - the pigment responsible for hair and skin tone.Nervous system (neurological) problems that may include seizures.A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.Signs and symptoms of untreated PKU can be mild or severe and may include: However, without treatment, babies usually develop signs of PKU within a few months. Newborns with PKU initially don't have any symptoms.

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