Congenital Condition

Phenylketonuria (PKU)

Phenylketonuria

Phenylketonuria is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that are high in protein. This can eventually lead to serious health problems.

Symptoms

PKU symptoms can be mild or severe and may include:

  • Intellectual disability (formerly called mental retardation)
  • Delayed development
  • Behavioral, emotional and social problems
  • Psychiatric disorders
  • Neurological problems that may include seizures
  • Hyperactivity
  • Poor bone strength
  • Skin rashes (eczema)
  • A musty odor in the child's breath, skin or urine, caused by too much phenylalanine in the body
  • Fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone
  • Abnormally small head (microcephaly)

Prevention

If you're a woman with phenylketonuria who's considering having a baby:

  • Follow a low-phenylalanine diet. Women with PKU can prevent birth defects by sticking to (or returning to) a low-phenylalanine diet before becoming pregnant. If you're a woman with PKU, talk to your doctor before you start trying to conceive.
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Detection/Treatments

PKU can easily be detected by a blood test.


The main treatment for phenylketonuria includes:

  • A lifetime diet with very limited intake of protein, because foods with protein contain phenylalanine
  • Taking a PKU formula — a special nutritional supplement — for life to make sure you get enough essential protein (without phenylalanine) and nutrients that are crucial for growth and general health

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