Phenylketonuria Essay

544 Words2 Pages

Lizeth Guevara
April 10, 2014
Biochemistry II
Dr. EESanchez

Phenylketonuria
Phenylketonuria, also known by the acronym PKU, is an inherited metabolic disorder that is caused by the deficiency of the enzyme known as phenylalanine hydroxylase, it eventually causes brain and nerve damage if not treated correctly. The effects of this metabolic disorder can also result in the gathering of amino acids in the body leading to progressive and permanent mental retardation. This disease as I mentioned earlier is inherited, researchers have yet to discover why the high levels of phenylalanine cause this sort of mental retardation, leaving this infants and children with a low IQ of less than 50.
Phenylalanine is an amino acid based on the C6H5CH2CH(NH2)COOH formula. The codons for phenylalanine are displayed as UUU and UUC. Phenylalanine descends to tyrosine, the monoamine signaling molecules like dopamine, noradrenaline, and adrenaline. Phenylalanine is found in breast milk, and is also used to manufacture nutritional supplemental products for its analgesic and antidepressant effect.
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