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Pheny

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by

susan rangel

on 6 February 2015

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Transcript of Pheny

Phenylketonuria
Is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. (Cannot digest the common protein).
Support Groups

National Groups
- National PKU Alliance
-Unified to Support Metabolic disorders
-Children's PKU Network


Indiana
-Indiana PKU and Allied Disorders Association
Living
-People with Pku need to follow a diet limits phenylalanine. Which is found in foods that contain protein.
-They need to keep records of food eaten everyday
-Measure food portions
in every meal and snack there is an amount of Pku formula they take
-Calculate the amount of phenylalanine eaten everyday
-They need to buy low-protein products (some can be expensive)
There is financial aid to cover cost of formula and low protein foods
Causes of genetic Disorder
-Genetic mutation

Susan Rangel
period: 6

Phenylalanine can build up in the brain and cause problems
Autosomal recessive

-Where both the mother and the father must have and pass on the defective gene.
-It is possible for the parent to have the defective gene, but not have the disease.
What are the odds?
In the United States there 1 in 10,000-15,000
Preventions
A women with Pku who is wanting a child....
-Needs to follow a low-phenylalanine diet
-
Can prevent birth defects before becoming pregnant
-Consider Genetic Counseling
-
Can help determine your risk of having a child with Pku

Complications
If the disease if untreated...
-Irreversible brain damage and intellectual disability with in the first months of the baby's life

-Neurological problems
Seizures
tremors
-Abnormally small head
-Behavioral, emotional, and social problems
-Health and developmental problems
Test and Diagnosis
In all the 50 states of the U.S. it is require for newborns to be tested for Pku
-(Done a day or two after the baby is born)
-(They take blood from baby's heel or arm)
Sources
-www.pku.new.org
- www.ghr.nlm.nih.gov
- www.mayoclinic.org
- www.pku.news.org
Other Websites
1. www.marchofdimes.org/
2. www.babysfirsttest.org/
3. www.npkua.org/
4. www.pku.com/
5. www.depts.washington.edu/
6. www.newbornscreening.info
Full transcript