Phenylketonuria-Naiomi

Phenylketonuria (PKU) Phenylketonuria is a metabolic disorder that changes the way the body breaks down protein. Every newborn is tested for it because if you don’t treat it right after birth it can be dangerous to the nervous system. It is caused by a mutation in a gene on chromosome 12. Phenylalanine hydroxylase enzyme breaks down the amino acid phenylalanine into other products the body needs, if this gene is mutated the shape of the PAH (phenylalanine hydroxylase) changes and it can’t properly break down phenylalanine. Shortly, it builds up in the blood and poisons the nerve cells in the brain.
 * Description: **

PKU is an autosomal recessive disorder. A carrier doesn’t have the symptoms of the disease. They however can still pass on the defective gene to the children. If each parent carries one copy of the disease, each of the children has 25% chance of getting it.
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At first, there are no symptoms but if they don’t treat it babies can experience brain damage. This brain damage can cause epilepsy, behavioral problems, and stunt the growth. Other symptoms are: eczema (skin rash), a musty body odor, a small head, and fair skin.
 * Symptoms: **

This disease must be treated early so every baby in the U.S. is routinely tested for it. A small blood sample is taken from the heel or arm and are checked for high levels of phenylalanine.
 * Diagnosis: **

PKU is treated by eating a protein free diet. Infants are fed special formula without phenylalanine. Older people have to avoid food with a lot of protein like meat, eggs, cheese, and nuts.
 * Treatment: **

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 * Interesting Facts: **


 * Support Groups: **
 * National PKU Alliance
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Children’s PKU Network


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 * Picture of boy with PKU**