What is Phenylketonuria?

Have you ever looked at the label on a can or bottle of diet drink. If you have then you may find wording that looks something like this
Contains a source of phenylalanine. So what is phenylalanine and why is it important that they tell us about it. Let’s find out more.

Phenylalanine is a component of aspartame which is an artificial sweetener about 200 times sweeter than sugar. It is used extensively worldwide in products as wide ranging as drinks, cakes and even crisps, and is even used as a table top sweetener.

There is a genetic disorder called phenylketonuria This is a bit of a mouthful and so if often abbreviated to PKU. This is associated with a faulty PAH gene. Since I inherit 2 copies of the PAH gene (1 from mum and 1 from dad), as long as I inherited one working version of the PAH gene from either parent. I’ll be able to make phenylalanine hydroxylase normally. If however both of the versions of the PAH gene that I inherited are faulty, All the instructions that I have for that enzyme are faulty. This results in the enzyme having the wrong shape and therefore being unable to convert phenylalanine into tyrosine.

Links to PKU support organisations

National PKU Alliance (USA) https://www.npkua.org/
National Society for PKU (UK) https://www.nspku.org/