Analysis Of Phenylketonuria (PKU)

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Phenylketonuria (PKU) is an inborn error of metabolism of the amino acid phenylalanine, which is inherited from the parents as an autosomal recessive condition. Classical PKU results from a mutation in the enzyme phenylalanine hydroxylase or in more rare occasions PKU can occur if the enzyme’s cofactor, tetrahydrobiopterin (BH4), is not being biosynthesised. The deficiency of phenylalanine hydroxylase prevents the conversion of phenylalanine to tyrosine, which is an essential precursor for catecholamines. Excess amounts of phenylalanine within the body may cause mental disabilities along with other symptoms.

Current research using gene therapy is still ongoing, where a functional recombinant phenylalanine hydroxylase gene named phenylalanine ammonia-lyase is used (PAL). This enzyme substitution in now in clinical trials.
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This line of treatment has been effective since it was first implemented in 1953. This dietary regime requires the patient to avoid certain foods high in protein like eggs, chicken, meat, cheese etc. However, Following this strict nutrition plan may be difficult especially in children.

Phenylketonuria was first discovered by a Norwegian physician named Ivar Asbjørn Følling in 1934. Dr. Følling noticed hyperphenylalaninemia (HPA) was associated with intellectual disability. He found that the strong smell of order from urine samples of children was caused by phenylpyruvic acid. In the 1950s Dr. Robert Guthrie created a screening test which was used on
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