Phenylketonuria, something important to me.

Phenylketonuria is a genetic metabolic disorder that affects 1 in 10,000 to 20,000 live births. All children in the US are tested for it at birth with a heel prick test called the Guthrie Test. People with PKU have livers that are unable to properly process proteins or more specifically, Phenylalanine.

I’m going to do something a bit different this week and not post recipes but talk about some things that are important to me, and have to do with diet and lifestyle. The first topic I want to talk about is Phenylketonuria.  Most of you have probably never heard of Phenylketonuria, or PKU. I have known about it for about 16 years now. My daughter’s Godmother, who is 19 and her 15-year-old sister were born with it.

For the sake of my sanity in typing I’m going to use the accepted abbreviation of PKU for the rest of this post and normally whenever I write about it in the future. For a person without PKU, the body will use a small amount of the amino acids in protein for growth and to repair and maintain body tissues, with the excess becoming processed by the liver.

With a person with PKU there is an absence of an enzyme needed to process the extra protein. The excess then builds up in the blood and causes damage to the brain. This damage can be severe in cases where the child was untreated. IQ scores are significantly lower than individuals with carefully monitored diets. Other symptoms shown in untreated PKU are delayed mental skills, social skills, intellectual disabilities, hyperactivity, seizures, tremors and much more. A pregnant woman with PKU needs to be on a carefully monitored diet due to the risk of severe birth defects.

They have their blood tested once a month, and dietary restriction can change based on the results. PKU patients also are seen at a PKU clinic every 6 months ( I believe that has changed to once a year due to lack of funding) to be evaluated for cognitive development and a physical exam.

Some adults are able to go off the diet, but those are usually the less severe cases and most are on the diet for life.

Now, there is much more medical information I could give you, and I will if you ask, but since this is a food blog, I’m going to focus on the diet. PKU can be mild to severe, but in most cases the child’s diet is restricted to little or no protein. Protein is found in foods most people wouldn’t even realize. Besides meats and eggs, dairy products of all kinds are restricted, as are nuts, artificial sweeteners such as Aspartame ( look at the back of a pack of Nutra Sweet, there is a warning label about it), regular bread and pasta, and even some vegetables such as corn and potatoes contain protein. When explaining it to people I don’t usually go into great detail, just say “They are basically vegans, but they can’t have bread or pasta either.”

A person with PKU can eat fruits, most vegetables, a special formula designed to give them the vitamins and minerals the diet is lacking, and specially formulated pastas and bread such as Loprofin pasta and EnerG Tapioca Loaf bread, among several other substitutes available online or in some health food stores. These special foods are expensive, and not covered by insurance.

I have been dealing with this since the girls were kids because I was their live-in babysitter for several years. As they became older, and went to school, I moved out. For several years the older girl was cheating on her diet and eating all sorts of things she shouldn’t, some dangerous to people not even on the diet (RAW BACON!!!). She might read this and I don’t want to publicly blast her, but even she now knows it was wrong. She had a really hard time in school, learning disabilities, it’s hard for her to focus, and she is delayed in other areas. The younger sister also cheats, and we ( her aunt and I) have talked to them many times about the repercussions.

The reason for this post is first to bring awareness to PKU, but also in a way it is because of them that I am the cook I am today. I learned to modify recipes for them that could at least be similar to what others were eating at the time. I made clam chowder a few months ago and made it for them substituting finely diced mushrooms for the clams, and they loved it! Over time I hope to get many recipes posted that will be suitable for them and others with PKU.

I want to thank Kelly Bogaski, who is the girl’s aunt and my friend with providing me with some of the information to put in this post. I knew all about the diet and what causes it, but not enough to explain well in written form, and Kelly just completed a college paper on the subject.

  Do you know anyone with Phenylketonuria? If so, how has it affected them? If anyone has any questions on the subject, please ask in the comments below, if I don’t know the answer, I will ask the girls.