Read on Twitter
It's PKU Awareness day, and I'm here to tell you about a rare genetic disorder called phenylketonuria or #PKU.
PKU is a disorder of amino acid metabolism, specifically phenylalanine or PHE. PHE is present in most foods, and it's essential. Our bodies convert phenylalanine to tyrosine and phenylethylamine, which are needed for important stuff like thyroid hormones and neurotransmitters.
People who are born with PKU have to strike a dietary balance every day. Our bodies need PHE, but too much PHE can have dire consequences to the brain of a person with PKU. High PHE levels can cause irreversible brain damage, depression, seizures, and much more.
Living with PKU means managing the levels of PHE in your body through dietary restriction. Basically, an extremely low protein diet has to be followed for life, and that diet needs to be supplemented by medical foods designed specifically for PKU.
That means no meat or seafood, no nuts, seeds, legumes, dairy, or anything else that has "higher" levels of protein. The PKU diet is packed with fruits and vegetables, but even some veggies have higher PHE concentrations, so those foods have to be restricted, too.
Even certain grains are too high in protein. Diet soda is out too, because aspartame is made with phenylalanine. Even bread and pasta are too high in protein, so many will have to buy low-phe pasta that can cost $15 a pound. Eating low-phe gets expensive.
Each person with PKU has different tolerance, and so the amount of PHE they can eat daily is different from one person to another. Periodic blood tests are needed to check blood PHE levels, with a goal of 2-6 mg/dL.
How do you know if you have PKU? Newborn screening is how. In the US, every infant is tested for several genetic disorders 48 hrs after birth because early detection and treatment can prevent death or disability and enable children to reach their full potential.
End of thread
