Sunday 5 August 2012

PKU

What is PKU ?

Phenylketonuria (fen-il-kee-to-NU-ree-a) or PKU is an inherited metabolic disorder that can cause abnormal mental and physical development if not detected promptly and treated appropriately with a special low protein diet.

Special chemicals called enzymes break down protein found in food we eat into amino acids. Other enzymes break down amino acids in our body but when there is not enough of this enzyme to break down the amino acid, phenylalanine or Phe, then it will collect at high levels in the blood.

Too much phenylalanine is toxic to the brain and other organs. Undetected and/or untreated, PKU results in severe mental retardation, hyperactivity and seizures.

Children with PKU may have lighter-colored hair, skin, and eyes. This is due to lower levels of melanin, the substance that gives color to hair and skin.

Treatment is a strict low protein diet which means avoiding eating meat, fish, poultry, eggs, milk and cheese and anything with aspartame.

Older children who have been diagnosed with PKU may need to check their phenylalanine levels more often and watch their diet more closely if they experience any of the following: Learning disabilities and Irritability
Hyperactivity and Tremors
SOURCES:

http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10335.html
http://www.pku.com/
http://www.pkunews.org/

 
This would mean if Leah's special diet is not followed in the institution it will mean a life of severe mental retardation and behavior problems for her. She would most likely not progress intellectually or not learn anything more than what she has learned now which would be a total shame. And just so you don't think Leah is just a figment of my imagination here is her photo from the federal database.


 

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