1. What is the disease?
2. What is the gene that the mutation occurs in to cause this disease?
3. What protein is produced by the gene from #2?
4. How and when was the disease first discovered/documented?
Dr. Asbjørn Følling discovered Phenylketonuria in 1934 when he examined two severely mentally retarded children.
5. What is the incidence rate of the disease in the US? In the world?
1 in 10,000 people in the US are affected by phenylketonuria. About 1 in 15,000 people are affected by the disease in the world.
6. Are any specific populations of people affected more than others?
In Turkey, 1 in 3,627 are affected by phenylketonuria.
7. What are the symptoms?
Symptoms include: Delayed mental and social skills, Head size significantly below normal, Hyperactivity, Jerking movements of the arms or legs, Intellectual disability, Seizures, Skin rashes, Tremors, Unusual positioning of hands.
8. How is the disease diagnosed?
The doctor will order a blood test to confirm the diagnosis, if a child or adult shows symptoms of Phenylketonuria. This test will involve taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine.
9. How is the disease treated?
Particularly when the child with Phenylketonuria is growing, the treatment involves a diet that is extremely low in phenylalanine.
10. What is the prognosis for a patient diagnosed with the disease?
If the disorder is untreated, severe mental disability will occur.
11. What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)?
Phenylketonuria is an autosomal recessive disease that is passed down by families
12. What current research is being conducted on the disease or its treatments?
Phenylketonuria experts suspect that current therapy for PKU may leave individuals with a higher risk for subtle deficits in brain function.
"About PKU." National PKU Alliance, npkua.org. Accessed 3 Feb. 2017.
NCBI. www.ncbi.nlm.nih.gov. Accessed 31 Jan. 2017.
"Phenylketonuria." The New York Times, New York Times Company, www.nytimes.com. Accessed 3 Feb. 2017.