Wednesday, December 1, 2010

Phenylketonuria (PKU)

Phenylketonuria is a genetic mutation that is passed to infants and is also one of the first things tested to see if a new born baby has it.  It is caused when there is too much Phenylalanine in the brain.  The condition that the babies get is a protein overload pretty much.  There is too much protein in the cells, brain cells specifically.  Cake, large sums of meat, sweets and even fuits are limited in there diet.  If having eatin to much protien it sends the cells inside the body into a shock of some sort.  It has been a while since i've been fresh on the subject, but what i do know that is for little kids it is hard life style they live.  At birthday parties, they must stay disciplined about there diet becuase of their diet they have to stick too.  They can mix and match certain foods like Wheat bread with some egg, or maybe just a little beef or chicken.  To much of the foods with high protein such as eggs, milk, cheese, soy beans, nuts, chocolate, fish, chicken, steak will make the incompitant enzymes work to hard and the protiens in those foods will build up.  But corn, most all fruits, bread low in protein, potatoes, pastas, Juices, and vegatables are freely aveuble to eat. 
       From the day that the baby with PKU is born, they take a test to see if they have it.  Thats how comin that desease is.  From that point on, the baby will take a formula the rest of their life that regulates the enzymes ability to breakdown phylalinine in the blood.  With out the formula, the enzymes aren't as capable to break down the protiens that they ingest, thus leading to a Phylalinine build up/ clot.  PKU is a disease that can be looked at as good or bad.  Living without mental retardation or autism is a great thing becuase certain cases, people with PKU have been left mentally reatarded and must stick to the diet set forth.  But for most, they have been blessed with being able to live physically normal and sticking to a formula that allows their insides to do what they need to do.  Keeps things in prospective, and on the bright side for certain sufferers of PKU. 

No comments:

Post a Comment