Sandbox Reserved 642: Difference between revisions
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== '''Implications or Possible Applications''' == | == '''Implications or Possible Applications''' == | ||
[[Image:PKU diet.jpg|thumb|600 px|right|PKU diet]] | [[Image:PKU diet.jpg|thumb|600 px|right|PKU diet]] | ||
The absence or malfunction of the phenylalanine hydroxylase enzyme due to the mutation of the ''PAH'' gene and | The absence or malfunction of the phenylalanine hydroxylase enzyme is due to the mutation of the ''PAH'' gene and inherited autosomal recessively. This may result in a genetic disorder known as Phenylketonuria (PKU). Due to a diet rich in phenylalanine, this enzyme is vital in the regulation in phenylalanine plasma concentration by converting about 75% of the amino acid to tyrosine. Excessive amounts of phenylalanine has been shown to cause mental retardation in humans. Treatment for such a disease is a low phenylalanine diet, avoidance of the sweetener Aspartame, and early detection. Presently, it is regulation to screen newborns children for phenylketonuria with a simple blood or urine test. <ref> January 2005: Phenylalanine Hydroxylase [http://www.pdb.org/pdb/education_discussion/molecule_of_the_month/download/PhenylalanineHydroxylase.pdf]</ref> | ||