Sandbox Reserved 642: Difference between revisions
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The absence or malfunction of the phenylalanine hydroxylase enzyme due to the mutation of the ''PAH'' gene and inheritance autosomal recessivly 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. | The absence or malfunction of the phenylalanine hydroxylase enzyme due to the mutation of the ''PAH'' gene and inheritance autosomal recessivly 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. | ||
== '''References''' == | |||
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