phenylketonuria (PKU)

 genetic disorder of metabolism

Etiology:

  • lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body.
  • results in mental retardation if not treated in early development.

Treatment:

Affected individuals must adhere to a diet low in Phe during childhood or Phe levels rise and become toxic, causing central nervous system injury.

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