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Phenylketonuria tests

Tests could include:

  • Phenylketonuria (PKU) Screening
  • History and Physical Exam
  • Serum phenylalanine measurement
  • Phenylalanine measurement
  • Neopterin measurement
  • Biopterin measurement
  • Tyrosine (amino acid) level
  • Urine Phenylalanine Measurement
  • DNA Mutational Analysis
  • A baby born with phenylketonuria (PKU) lacks a specific enzyme called phenylalanine hydroxylase. This enzyme is what allows the body to break down phenylalanine, an essential nutrient that your body requires, but can't create itself. Without this ...
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