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Phenylketonuria

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DeeAnn Stradley

on 7 December 2015

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Transcript of Phenylketonuria

This disease is inherited, and both parents must be carriers. If only one parent is a carrier, if neither of them are carriers, or if both or one of them actually have the disease, the child will not have it.
What are they missing?
Children that are born with this are missing pnylhealanine hydroxylase. this is needed to break down phenylalanine. This is found in foods that contain protein.
What happens
Without pnylhealanine hydroxylase levels of phenylalanine will build up in the body, and could possibly couse brain dammage.
Inherited
Symptoms:
Delayed mental or social skills
head is much smaller than normal
Hyperactivity
Jerking of the arms or legs
mental disabilities
...and many more
Exams and Tests
You can do a simple blood test to find out if a person has PKU. this test is done to all newborns before they leave the hospital. If the test comes back positive, further testing is done to be sure they are correct.
Formulas and Supplements
There is a special formula made for infants with PKU. Most people will need to be on a type of formula throughout their entire life.Taking supplements like fish oil, iron, or carnitine may also be needed or could help the problem.
Diet
What exactly is Phenylketonuria?
How to know if someone has this:
Treatment
Phenylketonuria (PKU)
If your child is, for some reason, not tested while in the hospital, and you are seeing signs of PKU, you should immediately contact your health care provider.
If you wait too long, your child could end up with brain damage or mental disablilities.
Phenylketonuria is a treatable disease! You should follow a very strict diet and avoid foods with milk, eggs, and any common foods containing these elements. A child with PKU should
always
be followed and watched by an adult who knows what he or she has to avoid. Women should definitly avoid these foods during pregnancy."Diet for life" has become the standard that most experts recommend. People who stay on the diet live a much healthier life.
Thank you for watching!
all information has been taken from: https://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
Definition:
an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in infancy.
, dictionary.com, and yahoo.com
PKU Awareness Month runs from November 2nd to December 3rd which is PKU awareness day.
1. What is a symptom of PKU?
2. What is a result of nothing being done about it?
3. How does a person get the disease?
4. What is the diet like for PKU?
5. When is someone usually tested for PKU?
Questions
Answers
1. head is smaller than normal, hyperactivity, ect...
2. brain damage
3. inherited/ both parents are carriers
4. no milk or eggs...
5. as a newborn (before they leave the hospital)
Full transcript