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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Phenylketonuria


Other Names for this Disease
  • Folling disease
  • Oligophrenia phenylpyruvica
  • Phenylalanine hydroxylase deficiency
  • PKU
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Your Questions Answered


1 question(s) from the public on this disease have been answered. Submit a new question.
  • Is it true that PKU testing became a test for all babies in the 1960's? If both parents have the gene, why aren't they affected by PKU early in or later in their lives? What is the chance of false positives/false negatives on the first PKU test taken at the hospital for an infant? Click here for answer