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Phenylketonuria


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Phenylketonuria

Alternative Names:

PKU
Symptoms:
  • Skin rashes (eczema)
  • Microcephaly
  • Tremors
  • Jerking movements of the arms or legs (spasticity)
  • Unusual hand posturing
  • Seizures
  • Hyperactivity
  • Delayed mental and social skills
  • Mental retardation
  • A distinctive "mousy" odor to the urine and sweat
  • Light coloration (frequent finding of light complexion, blond hair, and blue eyes)

Signs and tests:

Tests include:

  • Enzyme assay to detect the carrier state (parents)
  • Chorionic villus sample to detect fetal PKU (prenatal diagnosis)
  • PKU screening (a heelstick blood sample from the infant to screen for PKU, mandatory in most states)
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