Phenylketonuria
Single Gene disorder
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.
Discovery of Phenylketouria
Asbjorn Folling(above) discovered Phenylketonuria in 1934.
Phenylketonuria information
P.K.U is a recessive trait, it is very rare and happens in every 1 to 15,000 new born babies. The disease is found on chromosome 12. P.K.U is more likely to occur when you are born then later in life, but in rare cases it can develop as you get older. Environment is not a factor in you getting the disease. The picture above is a young baby with P.K.U.
P.K.U Organizations
A very popular organization is the National P.K.U Alliance.(NPKUA) Another won that is popular is the Mayo Clinic. The picture above is the NPKUA logo
Life expectancy while having Phenylketonuria
This disease can cause you to have a shorter life but can be prevented as long as you stay away from high protein products and limit intake. Examples of bad foods to eat would be, Broccoli, Protein powder, or protein bars and more. The picture above is protein powder this would be something you would never touch if you had P.K.U.
Step 1: Testing for P.K.U
First, run a screening test on the newborn baby and if it is out of range they will contact you for another appointment for further testing. If it is out of range it does not mean for sure that you have it. The picture above is a baby going through step 1 of the process.
Step 2: Indentifying the disorder
Secondly, they do a confirmatory test. Follow up testing consist of testing babies urine and blood samples for harmful levels of acids and toxins. Picture above is a baby with 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.