PKU Phenylketonuria

PKU is a disorder that causes phenylalanine, an amino acid, to build up in the body. Too much of this acid can cause brain damage such as emotional disorders or seizures. It has no cure, but can be treated with medicine and a low protein diet.

PKU is caused by a mutation in the PAH gene. It contains the instructions for phenylanine hydroxylase. The mutation causes the enzyme to be slower at converting phenylanine into other compounds. This decrease in speed can cause phenylanine to build up.

The PAH gene is found on the 12th chromosoneso it is not a sex linked gene. Although it is a ressesive trait.

PKU is tested with a blood draw at birth. It currently has no cures, but it is incredibly rare (less than 20,000 US cases a year). It is most common in Europeans and Native Americans.

Through my reasearch I learned that although PKU is rare, it doesn't usually cause death, but can cause many health complications.

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