Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. PKU PKU Signs and symptoms of untreated PKU can be mild or severe and may include: PKU  A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body Nervous system (neurological) problems that may include seizures Skin rashes, such as eczema Lighter skin, hair and eye color than family members, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone Unusually small head size (microcephaly) Hyperactivity Intellectual disability Delayed development Behavioral, emotional and social problems Mental health disorders  Severity varies The severity of PKU depends on the type. PKU  Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme needed to break down phenylalanine is missing or severely reduced. This results in high levels of phenylalanine that can cause severe brain damage. Less severe forms of PKU. 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.  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. PKU Pregnancy and PKU Women who have PKU and become pregnant are at risk of another form of the condition called maternal PKU. If women don't follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing baby. PKU PKU PKU Even women with less severe forms of PKU may place their unborn children at risk by not following the PKU diet. PKU PKU Babies born to women with high phenylalanine levels don't often inherit PKU. But a child can have serious problems if the level of phenylalanine is high in the mother's blood during pregnancy. At birth, the baby may have:  PKU  Low birth weight Unusually small head Problems with the heart  In addition, maternal PKU can cause the child to have delayed development, intellectual disability and problems with behavior.
newborns pku initially don't symptoms  however  treatment  babies develop signs pku months  pku pku signs symptoms untreated pku can mild severe may include: pku  musty odor breath  skin urine  caused phenylalanine body nervous system (neurological) problems may include seizures skin rashes  eczema lighter skin  hair eye color family members  phenylalanine can't transform melanin — pigment responsible hair skin tone unusually small head size (microcephaly) hyperactivity intellectual disability delayed development behavioral  emotional social problems mental health disorders  severity varies severity pku depends type  pku  classic pku  severe form disorder called classic pku  enzyme needed break down phenylalanine missing severely reduced  results high levels phenylalanine can cause severe brain damage  severe forms pku  mild moderate forms  enzyme still function  phenylalanine levels high  resulting smaller risk significant brain damage   regardless form  infants  children adults disorder still require special pku diet prevent intellectual disability complications  pku pregnancy pku women who pku pregnant risk form condition called maternal pku  women don't follow special pku diet pregnancy  blood phenylalanine levels can high harm developing baby  pku pku pku women severe forms pku may place unborn children risk following pku diet  pku pku babies born women high phenylalanine levels don't inherit pku  child can problems level phenylalanine high mother's blood pregnancy  birth  baby may have:  pku  low birth weight unusually small head problems heart  addition  maternal pku can cause child delayed development  intellectual disability problems behavior
phenylketonuria