riggsm+Phenylketonuria

Phenylketonuria (PKU) Phenylketonuria (PKU) is a rare disease that affects the way your body breaks down proteins. It can be destructive to the nervous system and can cause mental retardation. It is caused by mutation on a gene on chromosome 12. It also affects the neurons in the brain.
 * Description: **


 * Inheritance: **

PKU is a recessive disease and you have to inherit both copies of the gene to be affected by this disease. A carrier of PKU does not show symptoms. If both parents are carriers there is a 25% chance that the offspring will be affected by PKU.

The symptoms of PKU are usually hidden at birth but eventually if the disease is not treated babies and infants can experience severe brain damage. Then this can result in epilepsy, behavioral problems, and a stunt in the growth of the baby. Also, babies can be irreversible disabled before the age of one.
 * Symptoms: **


 * Daily Life: **

media type="custom" key="9658646"


 * Diagnosis: **

Doctors diagnose PKU by taking a blood sample from a babies arm or heel and is tested in a laboratory for high levels of phenylalanine.

People with PKU must follow a strict diet that is protein free. A special formula is given to babies and older children and adults have to try and avoid food with proteins. Also, some people can take a drug called Sapropterin for treatment and is to be used when the patient is on the PKU diet.
 * Treatment: **

PKU can now be successfully treated, and most of those affected by the disease become healthy adults. If your family has a history of PKU you can go to preconception genetic counseling. The doctor can do research and help you determine you risk of having a child with PKU.
 * Research: **

> >
 * Additional Facts: **
 * Norwegian doctor Asbiorn Folling discovered PKU in 1934.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">About 1 out of every 15,000 babies the U.S. are born with PKU.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Women with PKU can cause her baby to be born with development disabilities.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **




 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **




 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **

<span style="font-family: Arial,sans-serif; font-size: 10pt;">[]

<span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">Bryan Bunch; Diseases; Volume 6, Danbury, CT, Grolier Educational, 1997