PKU (Phenylketonuria)

PAH is the enzyme that is most commonly defective in people with PKU.

PKU is hereditary and is carried as follows:

A person can accumulate dangerously high phenylalanine levels in the brain, poisoning the neurons, and causing mental retardation and epilepsy if not treated correctly.

A baby with PKU may have a smaller than normal head, epilepsy(seizures), and mental retardation. A musty odor may occur. Also, the deficiency in tyrosine leads to a lighter skin and hair color on the baby.

The lack of tyrosine and the buildup of phenylalanine levels cause the symptoms of PKU.

The commonality of PKU is as follows:
     1 in 143,000 Japanese babies will be born with PKU.
     1 in 10,000 Caucasian and East Asian babies will be born with PKU.
     1 in 2,600 Turks babies will be born with PKU.
     1 in 4,500 Irish babies will be born with PKU.

PKU can be treated by giving the baby a low protein diet for as long as possible. Even after they get out of the toddler and childhood years, a limited protein diet will help with the symptoms of PKU.

I've never known about this disease until now, and I think it's pretty interesting. I think testing newborn babies for this disease is wise so that the parents can learn quickly how to treat their children and allow them to grow up with a semi-normal life. This is sad, and hopefully some day we can come up with a quick cure for this disease so that less children will have to deal with it throughout their lifetimes.