(PKU) Phenylketonuria

By Autumn Warbritton

Description

A metabolism error, the body is not able to break down the amino acid called Phenylalanine.


Causes and Complications

  • Inherited by both parents, missing and enzyme called phenylalanine hydroxylse.
  • If left untreated, brain damage will occur, and brain retardation.
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Testing, Treatment, and Life Outlook.

  • SImple blood tests.
  • Diet with low phenylalanine and supplements can increase tolerance and practically cure PKU.
  • Long and "normal" if sticking with the diet and supplements.



Prevention

  • Parents doing enzyme assays to determine if parents have the genes.
  • Mothers doing chorionic villus sampling when pregnant.