Phenylketonuria aka PKU

Over the course of the rest of this month, May, I will post more on topics relating to PKU. I will also share some photos and videos into my life with PKU.



May is Phenylketonuria, PKU, Awareness month, and well I have PKU. Never heard of Phenylketonuria, PKU before? If you have I am impressed! PKU is a rare metabolic disorder and it occurs in 1 out of 10,000-15,000 newborns. PKU is where our bodies are either missing or doesn’t have a properly functioning enzyme called phenylalanine hydroxylase. Due to this missing or “broken” enzyme our body can not break down an amino acid called Phenylalanine. This is a building block that creates the vital proteins our body needs to function but can only be obtained through food. You can typically see this amino acid in warning labels on diet beverages or even packages of gum.

It is certainly treatable through a strict low protein diet for life. I am sure you are already thinking now “How do you get your protein? Our body needs protein.” Well exciting for you, I am here to answer a lot of common questions us PKUers hear often, because I am sure you are already coming up with more questions.

Lets jump a little deeper into PKU in our bodies and the potential side effects we can experience. So back to how we get this vital protein if we can’t eat it. We are prescribed a supplemental medical formula (and now days sometimes pills, microtabs, powders etc) to help us receive the protein our body needs. When I was growing up in the 80’s and 90’s we didn’t have many choices as we do now days. Thanks to dedicated pharmaceutical companies creating new flavors, packages, and formulas that help provide the other vitamins and minerals we can not obtain through foods.
Now what happens when we consume this amino acid, we can sometimes feel side effects such as lethargy, headaches, mood swings, etc. These side effects are created by phenylalanine basically clumping together into our bloodstream and brain to create a toxic build up. After long periods of consuming large amounts of phenylalanine, we can see much more damaging and permanent effects from developmental delays, seizures, tremors, and even mental retardation. It remains imperative we stay on diet for life.
I am sure another question you have is “What do you eat?” Growing up I remember my mom spending a lot of her time in the kitchen putting together expensive recipes from a special cookbook. Thanks to her dedication and time to provide the best life and management of my PKU she’d make me delicious low protein foods, that even to this day I crave. From low protein bread, cinnamon rolls, rice krispy treats, pretzel sticks and lots of fruits and vegetables I always had a collection of options in our kitchen. Today we have home pioneers and large support groups thanks to the World Wide Web and social media to help us share recipes, tips and ideas. One helpful resource is a great website called My favorite recipe there has to be the Jeez Its. We also have the new capability of specially ordering these foods and cooking ingredients from online stores. One of my favorites to order from is Cambrooke Foods. They have a helpful customer service and always introducing new low protein food options for families to keep those options in their kitchens. Back to the question “What can you eat?” well sometimes in short we like to answer the question by saying we are vegetarian or some responses I have given “I eat a lot of salad and french fries”. Aside from the amazing low protein specialty foods we do consume a lot of fruits and some vegetables. But for those who are a bit more nutrition advanced, we eat a lot of carbohydrates.
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We have a ever changing PKU science community from new studies comparing such cognitive disorders and PKU. For example the link between PKU and ADHD. This is still something I am still intrigued with since being diagnosed with Adult Severe ADD and having PKU and I very curious about the link. Because of PKU and it’s rare occurrence, we will forever be learning new ways to manage our lives from our social aspects all the way to our kitchens. New medicine alternatives, new foods, and new friends are always at reach and around the corner.
I am always open for questions if you have any please leave a comment, e-mail, Instagram, or tweet me your questions 🙂
Stay tuned for more topics relating to helping you better understand PKU.
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