Phenylketonuria

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This is a disorder caused by the deficiency of phenylalanine hydroxylase hence the patient is unable to digest phenylalanine [1]. In severe cases, a build up of phenylalanine in the body can lead to brain damage and mental retardation. Sufferers of this disorder should be placed on a low phenylalanine diet to minimise effects of the condition [2].

References

  1. . Stryer,L., Jeremy M. Berg and John L. Tymoczko Biochemistry, 5th Ed.
  2. Hartl, D. L. and Jones, E. W. (2006) Essential genetics : a genomics perspective.4th ed.