Phenylketonuria (PKU)

because people arin't perfect

What is it??

Phenylketonuria a.k.a. PKU is a inherited disorder that increases the levels of a substance called Phenylalanine which is a building block of protein (an amino acids) that obtains through the diet. No one is more likely to get this disorder because it is passed down from your parents.

Symptoms of this disorder??

  • If you don't know if you have this you can watch out for
  • -Delayed development
  • -poor bone strength
  • -Behavioral, emotional, and social problems
  • -Skin rashes (eczema)
  • -Abnormally small head
  • -seizures
  • -Hyperactivity
  • -Stunted growth
  • -distinct odor in breath, skin, or urine ( described as musty)
  • -Lighter shin, hair, eye color then other family members
  • -less active
  • -lower levels of Melanin
  • -irritability and muscle stiffness

life with this??

The only thing that is different from any other child is that you have to eat a different diet and possible drink a special kind of formula and or eat special food. But other then that your life with this disorder is practically normal. You would start the treatment 2 to 3 week prior to being born, If followed correctly your baby would live its long life like a child with no disorder.
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How is this caused??

1 in 15,000 babies have this disorder in the US. Not any group of people are specifically targeted and one could have it. This disorder is audosomal recessive gene passed by both parents of the off spring kind of mutation. It is affecting the 12th chromosome. The name of the mutation is PAH( Phenylalanine Hydroxylase)

Treatments

The treatments are the special food diet but there is also a medication that you can possible take as well, it was recently approved, its sapropterin (Kuvac). The only problem is that its not for everyone so i would ask your pediatrician. If your hoping the treatments will cure you it would. This disorder is non-curable
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facts

  • You'll have to ask your doctor on how to get the specially processed food and coolers( a type of formula).
  • People with this disorder can't have a lot of: milk, cheese, nuts, and meat because they are high in protein.
  • If not treated properly, it can cause brain retardation and severe nerve damage.
  • PKU stands for an inherited inability to metabolize Phenylalanine that causes brain and nerve damage if not treated.

Someone who has this??

There's a little boy that has the disorder. His name is Cody Powell and he is 11 now. He is my brother back home. Other then this disorder, he is just like the average kid but there's only one problem he can have any food that is high in protein like: milk, cheese, nuts, and meat. His disorder caused him to have anger issues, development problems, and lower levels of melanin. When a normal kid gets dressed, they know what matches and what doesn't. He doesn't; he just knows how to put it on. When he was younger, he was put on a certain formula that helped level out his protein. He also had to have differently processed food from the rest of our family. He is still loved and that is all that matters. His disorder is being treated and he is a happy, healthy little boy.

Wrote by??

My name is Ashley Hanson and for my project i chose a disorder that not one else did. It turned out that my own little brother was born with it. So it helped that i had a personal connection and already knew a lot about it. I know now i'm really glad i chose this one because there are something that i didn't know and wished i did know. So i say now thank you Ms. Michaelson for giving me the opportunity to find out more about my baby brothers disorder so i can help watch what he eats.

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