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Updated: Dec 25 2021


  • Snapshot
    • A 2-month-old infant was born with blond hair, blue eyes, and fair skin. It is noticed he has an eczematous rash and is vomiting. In addition he has a musty, mousy odor.
  • Introduction
    • Screened for at birth in the US by one of the following
      • Guthrie bacterial inhibition study
      • automated fluorimetric assay
      • tandem mass spectrometry
    • Caused from a decrease in phenylalanine hydroxylase or tetrahydrobiopterin cofactor
      • normally converts phenyalanine into tyrosine
      • therefore tyrosine becomes essential
      • phenylalanine builds up leading to excess phenylketones which cause brain damage
  • Presentation
    • Infants are normal at birth
    • After a few months mental retardation is evident
    • Present with
      • blond, blue eyed, with fair skin
      • mental retardation
      • eczema
      • musty body odor of phenyacetic acid
      • vomiting is common and is often mistaken for pyloric stenosis
    • Physical exam shows
      • hyperactive deep tendon reflexes
  • Treatment
    • Decreased phenylalanine diet
      • early institution is essential to prevent the development of brain damage
    • Increase tyrosine in diet
    • Pregnant mothers with PKU must go back on a low phenylalanine diet before conception and through pregnancy to reduce the risk of birth defects
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