Phenylketonuria (PKU)

1. Phenylketonuria(PKU) By Karl Beyer Brain Hilland (HPA) – Hyperphenylalaniemia (PAH) - Phenylalanine hydroxylase (PKU)- Phenylketonuria

2. What is type of inheritance is Phenylketonuria? • It is a Genetic disorder that is obtained through the mother and is usually passed down to their offspring. This effects both men and women alike, although sometimes the genetic disorder sometimes can be broken.

3. Is PKU allele recessive or Dominate? • A recessive Allele.

5. Where does PKU come from? • When (HPA) - a characteristic by which amino acids increase) has a lack of (PAH) – a rate limiting enzyme of the metabolic pathway which gets rid of extra phenylalanine) It creates a genetic disorder called (PKU) Phenylketonuria. (HPA) – Hyperphenylalaniemia (PAH) - Phenylalanine hydroxylase (PKU)- Phenylketonuria

6. What PKU Does to the Human Nervous System • Axons and dendrites are nerve cells. Many Axons are covered by an insulating layer called the myelin sheath. • Many untreated PKU patients can make to much Axons and dendrites which leads to mental retardation. Which cause imperfections in the myelin sheath referred to as hypomyelination and demylenation.

7. This is an example of a family with PKU

8. How is one diagnosed with PKU? • The test babies for PKU at the age of about 8 months with a blood sample taken from the ankle. From their you either have it or you don’t. Example

9. How is PKU treated? • PKU is treated with a special diet. Since people with PKU are under 10 it would stink to be on a diet and not pig out all day.

10. What is every day like? • The only thing Patients have to watch out for is their diets. If they don’t do that slowly the will go Mentally Challenged. And they occasionally get shots every year for tests of PKU.