Phenylketonuria (Pku)

Topics: Phenylketonuria, Enzyme, Gene Pages: 2 (644 words) Published: March 20, 2013
Joselin Ramirez March 7, 2012
Phenylketonuria (PKU)
Phenylketonuria is a disease that was discovered by Dr. Asbjorn Folling in 1934. It is known that 1 out of 13,000/19,000 babies are born with this type of disease. Most people with Phenylketonuria can live healthy as everyone else. If the low phenylalanine diet is started when they are babies and continued for the rest of their lives. The symptoms will usually disappear after the diet is started. What doctors’ state about Phenylketonuria is “Phenylketonuria cannot process a part of protein called phenylalanine, which is present in most foods. Because of a genetic abnormality, affected individuals lack or have very low levels of an enzyme (phenylalanine hydroxylase or PAH) that converts phenylalanine to other substances the body needs. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.”

The way that Phenylketonuria is diagnosed is that when a new born baby is born in the U.S or any other country. The doctor pricks on the babies hand or heel to collect blood and puts a few blood drops on a filter paper. After the filter paper, the doctors put it in a plate of bacteria. This kind of bacteria can’t grow without Phenylketonuria. If the bacteria does grow the baby does have phenylketonuria. And the bigger the blood spot gets the more Phenylketonuria there is in a baby. In some cases the doctors may redo the test because they want to make sure that their getting the correct results and in the second test they can also determine if the phenylketonuria is high.

Phenylketonuria isn’t a sex-linked. It’s just a recessive disease. Phenylketonuria is inherited only when one or two parents carry the Phenylketonuria gene. This is caused in the twelfth chromosome, and changes it. For example, if a woman has Phenylketonuria, she might also give her child phenylketonuria during the pregnancy, even if the fetus doesn’t have Phenylketonuria. After the baby...
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