Phenylketonuria (PKU)

Decent Essays
Phenylketonuria (PKU) occurs in 1 in 15,000 newborn babies just in the United States. All around the world, PKU affects about 1 in 20,000 newborns. PKU does not affect a person’s life expectancy no matter if they receive treatment or not. It is screened for in all newborns in all 50 states. (Boston Children’s Hospital, 2005-2017) Description Phenylketonuria (PKU) is an inherited disorder that causes the phenylalanine in the body to build up to unsafe levels. Phenylalanine is broken down in the body by enzymes, and with PKU, the genes needed to build the enzymes have a defect. Without these enzymes, the phenylalanine is not broken down like it’s suppose to be, and the build-up starts to occur once food with high levels of protein are digested.…show more content…
A woman brought her two children, a 6 year old girl and a 4 year old boy, to see this doctor. Both these children were mentally retarded. The little girl loved music, although she could only saw some words. She sometimes had a large appetite, while other times she refused to eat. The little boy could not talk at all or walk, he could not eat or drink without the help of someone else, and he couldn’t focus on any one thing. This doctor could not find anything wrong with a physical examination, but when he did a urine test is when he found something out of the ordinary. He added ferric chloride to their urine samples. Usually, the color stays brownish. Both of the children’s urine samples turned green. The doctor had never seen this before, but soon concluded that these two kids urine had something in it that is not present in normal urine. This was just the beginning of the discovery. (PKU News,…show more content…
Being treated though can reduce a lot of the health problems that come along with it. Like stated earlier on in the paper, people with this disorder need to follow a strict diet that limits the phenylalanine that they take in. These people need to avoid the high protein foods as much as possible. Some of the foods with high protein include: milk and cheese, eggs, nuts, beans, chicken, beef, pork, fish, and peas. Some fruits and vegetables also fall under this category. Each person with this disorder is different when it comes to how much phenylalanine is safe for them to consume. Because of this, each person gets a special individualized diet they need to follow. These people won’t be getting enough of the essential nutrients that they need from food, so along with their diet, they have to drink a special formula everyday. This formula helps them meet their nutritional needs. Additional treatments for PKU are being explored. Another option that is being looked at is using gene therapy. (NIH, 2012) Outlook The long-term outlook for people with PKU looks very good if they follow their diet closely. If for some reason the treatment is stopped or delayed, brain damage can occur. (MedlinePlus, 2017) Doctors in the past would tell their patients with PKU that as they got older, they could start laying off the diet. There has been discussion today about whether or not that is right. Most doctors go against that idea today. (NIH,
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