PKU+(phynlketonuria)

=PKU (phynlketonuria)=

Heather Tougias Samantha S.

I HAVE USED RED AND CAPS TO MAKE SURE YOU SEE MY COMMENTS I AM NOT YELLING :-) **ALL YOUR ANSWERS NEED TO PROVIDE MORE INFORMATION**. ANSWERS DO NOT PROVIDE ENOUGH INFORMATION. YOU NEED TO BE MORE DETAILED AND ELABORATE. YOU NEED YOUR READERS TO HAVE A CLEAR UNDERSTANDING OF WHAT PKU IS AND THE DIFFERENT ASPECTS OF IT. YOU MAY SEEM LIKE YOU ARE REPEATING YOURSELF FROM QUESTION TO QUESTION BUT THAT IS OK. AND USE COMPLETE SENTENCES FOR ALL YOUR ANSWERS

__**Questions**__

1.) What is the name of the defect? The name of the defect is phynlketonuria(PKU). PKU is an amino acid found in protein. Normally the body breaks down the amino acid, but in a baby with PKU it is not able to break down the phenylalanine.

2.) What are the symptoms? Describe in detail. The symptoms of PKU show up a few months after birth. The symptoms of this disease are a musty odor in the child's breath, skin or urine; lighter skin and hair than other family members; rocking, tremors or seizures; skin rashes, small head size; stunted growth; and vomiting. Another sign that a child has PKU is that the child will be unreasonably irritable and destructive. In cases left untreated, it may cause mental retardation.

3.) What population does the defect most commonly affect (if any)? (Only males, whites, etc.?) If the mother has PKU then there is a chance it can be passed down to the baby. This disease can be found in anyone but, mostly in Caucasian and Native American populations than in African-American, Hispanic, and Asian populations. It is mostly in Caucasian and Native American populations because they have a higher risk of getting it.

4.) What is the cause of the defect? (genetic, environmental or combination of both) The cause of PKU is genetic. In order for a child to be born with PKU, both parents must have the defective gene.

A.) If the defect is a genetic defect is it a dominant or recessive trait or is it the result of a mutation? The defect is the recessive trait.

5.) When is the defect most commonly diagnosed? (At birth, prior to birth, or what age be specific) PKU is diagnosed between 24 hours and 14 days after birth.

6.) How is the defect most commonly diagnosed? (can you see it, is ther test for it?) The test for PKU is in a drop of blood taken from the heel of a newborn baby’s foot. The doctor will look to see if there is bacteria growing around an unusually large amount of phenylalanine (which is an essential amino acid) in the blood.

7.) How is the defect treated and who (which specialist) treats the defect? What is the hope for a cure in the future? They put the patients on diets which are low in the amino acid that caused their phenylalanine levels to be abnormally high. This helps them break down the amino acids and be like a normal baby. If the doctors detect this disease early on they can put them on the diet and it prevents mental retardation. But, this does not work on older children and adults. They can only prevent it at birth with a diet, there is no real cure. The diet only works on younger children and babies; the sooner they catch the disease the better.

8.) Is there any way to prevent the defect? If so, what precautions are needed?

When they realize a baby has this disease they put them on a diet and this prevents mental retardation. The diet causes their phenylalanine levels to be abnormally high which is a good thing that helps prevent mental retardation. The other way to help your baby is to be tested for this disease so you know if the baby might get it.

9.) Find a case study, a person’s story about having this defect. Kristin Larocque, Age 10 is a little girl who was diagnosed with PKU. She must go to the hospital every six months to make sure she is following her diet and to check her protein levels. Then, they give her a test to check her concentration abilities. Kristin deals with having PKU very well. She must follow a strict diet with almost no protein; however, she still eats foods like bagels, pasta, cheese, and chocolate. They even have made a speciality food shop near the hospital she goes to with food that she’s able to eat. Her parents were in shock when they first learned their newborn baby had this disease, but they adjusted well and so did her family.  ([])

10.) What kind of support is available to families of a child born with this defect? There are plenty of support groups out there and hotlines with information about dealing with diseases and birth defects, such as NSPKU (The National Society for Phenylketonuria), and the Phenylketonuria Suport Group. One that is near Colchester is the New England Connection for PKU and Allied Disorders (NECPAD).

11.) At least one additional information about the birth defect that had an impact on you.

It affects about one in 15,000 children in the United States. This impacts me because it impacts the country I live in and I did not even know about this disease, let alone that it affects a lot of people in the United States. I hope one day we will find a cure for this disease, because it affects people. It shouldn’t matter if it is happening to everyone or one out of 15,000 people, the United States should spread the word of the disease so people can be aware of it.

__** Works Cited **__

"PKU (Phenylketonuria)." World of Scientific Discovery. Gale, 2007. Gale Science In Context. Web. 18 May 2012.

Thomas, Patricia D. "Phenylketonuria (PKU)." Nutrition and Well-Being A to Z. Ed. Delores C.S. James. Vol. 2. New York: Macmillan Reference USA, 2004. 137-138. Gale Virtual Reference Library. Web. 16 May 2012.

PKU (phenylketonuria)." U*X*L Science. U*X*L, 2008. Gale Science In Context. Web. 18 May 2012.

Letcher, Marshall G. "Phenylketonuria." The Gale Encyclopedia of Genetic Disorders. Ed. Stacey L. Blachford. Detroit: Gale, 2010. Gale Science In Context. Web. 16 May 2012.

"Phenylketonuria (PKU). ." RelayClinical Education., 2012. Health and Wellness Resource Center. Web. 16 May 2012.