PKU Genetic Disorder

Phenylketonuria

What is PKU?

PKU is a disease that affects the amount of protein the human body can handle. People with this disease can only have a certain amount of protein because their bodies can't get the protein where its suppose to go it's also hard for these people to digest protein.

Symptoms of PKU and Testing to see if PKU is present

Many people with PKU experience these following symptoms, delayed development, behavioral problems, social problems, emotional problems, poor bone strength, skin rashes, mental retardation, and abnormally small head. If treatment is not taken seriously then symptoms will become more severe.


Test

Every newborn in the U.S.A is tested for PKU after birth. They test the newborns with a blood test to determine whether the disease is present or not.

Care and Treatment

The affected child will need to stay on a limited diet of protein to maintain a healthy brain. If the person affected gets off the diet they will suffer brain damage. There is no treatment for this disease. We learn more about it everyday.

Can it be prevented?

PKU can not be prevented because it is a genetic disorder. Some people can be a carrier of a defective gene and will not be affected but if both parents have one defective gene then the child has a chance of getting PKU or just being a carrier of the defective gene. A carrier of the disease will not be affected only a person with two defective genes.

Work Cited

Mayo Clinic Website, Diseases and conditions, Article by Mayo clinic and staff.

http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/prevention/con-

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Health Line Website, PKU disease and overview, Article by Cindie Slightham.

http://www.healthline.com/health/phenylketonuria#Overview1


March of Dimes Website, PKU in your baby, Article written by March of Dimes company and staff.

http://www.marchofdimes.org/complications/phenylketonuria-in-your-baby.aspx


National PKU News Website, News and information, Article written by National PKU News company and staff.

http://pkunews.org/