Phenylketonuria+(PKU)+-+Amanda+C

Phenylketonuria **Description: **This is a rare genetic disorder that affects how the body breaks down protein. This disorder is destructive to the nervous system and causes mental retardation if not treated right after birth. This disorder is caused by phenylalanine building up in the blood stream poisoning the nerve cells of the brain. **Inheritance: **This disorder is autosomal recessive; both parents need to carry it. **Punnett Square: ** **Symptoms: **At first a person with Phenylketonuria does not show any symptoms. When this disorder is left untreated, very harmful brain damage can cause epilepsy, behavioral problems, and stunt the person’s growth. Also, a skin rash can occur, foul body odor, fair skin, seizures, hyperactivity, and a tiny head compared to the body. There can be jerking movements of the arms and/or legs. **Diagnosis: **All new born babies in the United States are tested by removing a blood sample from the baby’s heel or arm. The blood is taken into a lab to search for high levels of phenylalanine. **Treatment: **Infants need to take a special formula to treat Phenylketonuria. People affected who are not infants, must eat a protein free diet avoiding all protein-rich foods and artificial sweeteners.

**Interesting Facts: **

media type="custom" key="9660020" align="center"


 * Support Groups: **Children’s PKU Network, National PKU Alliance
 * Sources: **<span style="color: black; font-family: 'Times','serif'; line-height: 115%;">University of Utah.
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Pictures: **