Phenylketonuria: Difference between revisions
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This is a disorder caused by the deficiency of [[Phenylalanine hydroxylase|phenylalanine hydroxylase]] hence the patient is unable to digest [[Phenylalanine|phenylalanine]] <ref>. Stryer,L., Jeremy M. Berg and John L. Tymoczko Biochemistry, 5th Ed.</ref>. In severe cases, a build up of [[ | This is a disorder caused by the deficiency of [[Phenylalanine hydroxylase|phenylalanine hydroxylase]] hence the patient is unable to digest [[Phenylalanine|phenylalanine]] <ref>. Stryer,L., Jeremy M. Berg and John L. Tymoczko Biochemistry, 5th Ed.</ref>. In severe cases, a build up of [[Phenylalanine|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 <ref>Paul, D. A double-edged sword. Nature 405, 515 (2000) doi:10.1038/35014676</ref>. Sufferers of this disorder should be placed on a low phenylalanine diet to minimise effects of the condition <ref>Hartl, D. L. and Jones, E. W. (2006) Essential genetics : a genomics perspective.4th ed.</ref>.<br> | ||
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Latest revision as of 21:35, 18 November 2016
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