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Transcript of Pheny
Is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. (Cannot digest the common protein).
- National PKU Alliance
-Unified to Support Metabolic disorders
-Children's PKU Network
-Indiana PKU and Allied Disorders Association
-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
Phenylalanine can build up in the brain and cause problems
-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
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
If the disease if untreated...
-Irreversible brain damage and intellectual disability with in the first months of the baby's life
-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)