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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. This condition can also cause eczema and pigment defects resulting in lighter tone of skin ^[2]. Sufferers of this disorder should be placed on a low phenylalanine diet to minimise effects of the condition ^[3].

References

↑ . Stryer,L., Jeremy M. Berg and John L. Tymoczko Biochemistry, 5th Ed.
↑ Paul, D. A double-edged sword. Nature 405, 515 (2000) doi:10.1038/35014676
↑ Hartl, D. L. and Jones, E. W. (2006) Essential genetics : a genomics perspective.4th ed.

[1] . Stryer,L., Jeremy M. Berg and John L. Tymoczko Biochemistry, 5th Ed.

[2] Paul, D. A double-edged sword. Nature 405, 515 (2000) doi:10.1038/35014676

[3] Hartl, D. L. and Jones, E. W. (2006) Essential genetics : a genomics perspective.4th ed.

[1]

[2]

[3]

Phenylketonuria

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Phenylketonuria

References

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