PKU Phenylketonuria Type of genetic disorder Phenylketonuria is

PKU Phenylketonuria

Type of genetic disorder � � Phenylketonuria is and inherited disorder were both the parents have to pass down the gene. It is a autosomal recessive genne

chromosomes diagram IF THIS WHAS PKU THEN THERE WOULD BE SOMETHING RONG WITH THE 12 CHROMOMSOME.

Symptoms � � � Children with the disorder have lighter skin color, eye color, and hair color. They can also can have seizures, delayed mental and social skills, rashes, smaller head size. People who have this disorder can not have any thing with phenylalanine in it. If they don’t avoid thing with phenylalanine in it then they will start to give off a musty.

diagnosis � � Doctor test the new born by sticking there heal and testing the blood. Most states now require hospitals to test newborns for the disorder.

prognosis � If people stick to the diet then they will live a fine life but if they stop the diet then they will have mental problems and have trouble learning.

treatment � � Treatment for the disorder includes a special diet. The are not alowed to have any thing with phenylalanine in it. There is a special formal for infants so that it doesn't have phenylalanine.

Pku test

� � � � story Imagine you’re a new born baby and you just got back from the hospital, you think, "What could possibly go wrong? " DRING, DRING. Just one phone call changed everything. Good afternoon honorable judges, teachers, and fellow classmates. That phone call introduced my parents to PKU is a genetic condition, and with that comes responsibilities such as understanding what PKU is, going to Toronto to visit my dietician, and being careful about what I eat. By the end of my speech you’ll be an expert on PKU! There is a lot of information to learn about PKU. When someone has PKU they have to follow a low protein diet because their body can’t break down a part of protein (so they’re a little different from you!). There is a part in protein called PHE. . . that is the part that I can’t have. Some people choose to go on diets to lose weight, but I didn’t have a choice. . . I was diagnosed with PKU when I was a baby. When I got home from the hospital my parents got a phone call from my doctor, and they were told to go to Sick Children’s Hospital in Toronto. It was a scary shock for my mom and dad. . . but they handled it well. PKU is not a very common condition; in fact, in Ontario about 1 child in 12, 000 is born with PKU, so as you can see this is a very rare condition. However, believe it or not there is another person with PKU who lives around the corner from me! I do meet other children with PKU when I go to Children’s Hospital. Another responsibility I have is to go to the hospital every 6 months. I get really excited because I get to miss one whole day of school! I go all the way to Toronto to visit my dietician. Her name is Valerie Austin. She helps me with controlling my diet. She suggests new foods and makes adjustments to my formula. She also tells me how my protein levels have been. After I visit her, I usually go to doctor Fagonbom. She tests my abilities and sees how much concentration I have. And then comes the worst part of going to Children’s Hospital. I have to get a needle, yes a needle to see how much protein I’ve had. I also have a pen at my house that I use to prick my thumb every month and then I send a sample of my blood to the hospital, and they send me my protein levels. I think going to Toronto is one of the best parts of having PKU. Though it may be tempting I can’t just go and gobble up a big plate of lasagna! I have to be careful about what I eat. I can’t have many of the dairy or grain products, but definitely none of the meat and alternatives. I can have 24 equivalents a day, so I can have puddings, cookies, crackers, and foods like that. But you’re probably still thinking, "What does that girl eat? " Well I eat a lot of fruits and vegetables but I’m very lucky to have my own low protein foods. I have bagels, pasta, cheese, chocolate and much more and they’re all protein free! So I can have as much as I want. Another stop I make when I go to Children’s Hospital is the specialty food shop where I get all of my food. And if I ever run out of food, my mom can just order some more right over the telephone! I need to be a healthy and strong girl when I grow up so I need to have nutrition. I take that in my formula. I have to have my formula 3 times a day, morning, lunch, and supper. And did you know if I’m ever getting bored of what I’m eating I can just pull out the PKU cookbook and experiment!!! Though one of the foods I’ll never get tired of is my bagel. I have it twice a day. I’m sure there a lot more low protein foods to come and waiting for me to try ! Overall there a lot of responsibilities when having PKU, knowing and understanding what PKU is,

Bibliography � � � "Pub. Med Health - Phenylketonuria. " Web. 15 Feb. 2011. <http: //www. ncbi. nlm. nih. gov/pubmedhealth/PMH 0002150>. "PHENYLKETONURIA (PKU). " Health Community, Health Information, Medical Questions, and Medical Apps - Med. Help. Web. 15 Feb. 2011. <http: //www. medhelp. org/lib/pku. htm>. "Phenylketonuria - Genetics Home Reference. " Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 15 Feb. 2011. <http: //ghr. nlm. nih. gov/condition=phenylketonuria>. Staff, Mayo Clinic. "Phenylketonuria - Mayo. Clinic. com. " Mayo Clinic. Web. 15 Feb. 2011. <http: //www. mayoclinic. com/health/phenylketonuria/DS 00514>. "Personal Stories: My PKU Diet Story. " National PKU News. Web. 16 Feb. 2011. <http: //www. pkunews. org/personal/my. PKU. htm>.