PKU Disease (Phenylketonuria)

By: Gabriela

Causes and Symptoms

The PKU disease is caused by mutations in the gene in chromosome 12. It can be inherited by a person's offspring (child) as a recessive trait. When a person is born with this disease, there are no symptoms at first. However, if there is no appropriate treatment for the disease, the symptoms will appear. The baby that have this disease will experience brain damage, epilepsy, problems in the way it behaves, skin rash (eczema), body odor, fair skin, it will have a small head, and the baby will not be able to grow well.
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Treatment

Unfortunately, this disease can't be prevented, since it occurs in people's genes. It also can't be completely eliminated from the body once a person has it, but the effects can be minimal if it is treated. The people that have this disease must eat a diet that doesn't have much protein, because almost all proteins contain phenylalanine (which is an enzyme located in the liver). Babies are given a special liquid food without phenylalanine. Older people have to avoid eating food that have a lot of protein, like meat, eggs, cheese, and nuts. Also, they have to avoid artificial sweeteners, like aspartame.

Medical Assistance & Diet

People that have PKU have to be vegetarians and eat things that don't have a lot of calories. They also have to take drugs called "formulas".
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Children born with PKU

Prenatal Tests

There are various ways to know if a person has or not the PKU disease. The first way is by doing a blood test, or newborn screening, on babies. The doctor gets a few drops of blood from the baby's heel, which is sent to a laboratory. Then people check the blood for abnormal amounts of phenylalanine.

Another way for knowing if a person has or not the PKU disease is testing in older people that have the symptoms but weren't identified as having PKU when they were babies because of a minor failure in the process of testing. A person can even test if their baby will have PKU during pregnancy in a DNA test.

Affected Population

Anyone could be affected with PKU if they had the mutation that causes this disease. Many are babies, teens, and elders. If a person is born with PKU, she probably will be able to have children because the disease doesn't affect the area of giving birth.

Bibliography

National Institute of Child Health and Human Development - What Causes PKU?

http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/causes.aspx


National Institute of Child Health and Human Development - Treatments for PKU

http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/treatments.aspx


University of Utah

http://learn.genetics.utah.edu/content/disorders/singlegene/pku/


Public Health Lab Log - Newborn Screening

http://www.aphlblog.org/tag/pku/

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