Single Gene disorder

Big image

Phenylketonuria Definition

Phenylketonuria is a rare metabolic disorder that affects the way you break down proteins. Is a single gene disorder that can change your life forever. The photo to the right shows you how Phenylkentouria is developed. Above is Chromosome 12 where the disease is located. Is also known as P.K.U.

Symptoms of Phenylketonuria

When you have P.K.U you have to eat a very low protein diet or it could cause you to stunt your growth, cause your head to shrink or in very rare cases cause death if untreated. Proteins contain high amounts of Phenylalanine which is why you can't eat proteins when you have P.K.U. The picture to the left shows a baby with P.K.U as you can see her head is much smaller then a normal baby.

How to prevent Phenylketonuria

There is a way to help prevent P.K.U, When you are pregnant you can determine whether your child gets P.K.U. First, you can eat a low phenylalinine diet. There is no therapy or medication or research that can help you for sure. The possibility of getting the disease is slim and very rare and the prevention is not guaranteed.