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Message: <blockquote data-quote="phoenix" data-source="post: 710762" data-attributes="member: 12578">Phenylalanine is  an essential amino acid, one of  the 9 amino acids that our body requires and that cannot be synthesised in the body.  We get it in the diet and use some directly  but the body converts  excess into another useful protein tyrosine(used for thyroid hormones ,adrenaline and dopamine ) .PKU babies  have a mutation which makes them unable to convert  phenylalanine to  tyrosine.  The phenylalanine builds up and is converted into a toxic  product  phenyl-pyruvate.This  is what leads to metal retardation and a musky odour caused by the build up in the body . Fortunately tyrosine can also be obtained from dietary sources so a PKU diet has to reduce  phenylalanine in the diet ;not taking sweeteners is actually quite a  minor part  since  most protein containing foods such as milk, nut, cheese, eggs, chicken , peanut butter and beef are all quite high sources of it!<a href="http://depts.washington.edu/pku/about/diet.html" target="_blank">pku diet</a>Children in most developed countries are tested at birth for it with a small drop of blood taken from the heel.Because one normal copy of the gene is enough then,  people who inherit  the mutation from one parent  would have no problems</blockquote>

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