What is PKU?

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PKU is the acronym for Phenylketonuria, a rare condition that generally affects a person’s health by increasing the amount of phenylalanine in the blood. An individual who has this kind of disease encounters difficulty in the breakdown of essential amino acids. PKU is often hereditary and can occur in babies. It is mainly caused by a mutation in the PAH genes of both mother and father. When this gene is passed on the baby, the baby is likely to suffer from PKU. However, its symptoms may not show until at a later time.

Classic PKU in babies can appear normal at first but symptoms can show at a later time. The most common symptoms of PKU are delayed cognitive development, problems in behavior, and seizures. As the baby grows, it may further develop certain unpredictable psychiatric disorder . Treatment at the early signs of PKU is high recommended by experts. People who have untreated PKU suffer from having a mouse-like odor because of the excess production of phenylalanine in the body.

The variant PKU is the less severe type of the disease. Its symptoms are almost similar to the classic PKU but not that frequently reoccurring. Its treatment is also easier than the former. For instance, a person who has classic PKU may be encouraged to have a low- phenylalanine but for variant PKU, it may be not needed.

PKU may be diagnosed through blood test. In the U.S. experts have designed a routine check-up for newborns using blood samples. Every baby born is basically extracted with a few drops of blood through a lancet in their heels to test whether or not the baby is at risk of developing PKU or other genetic disorders. PKU occurs in 1 in 10,000 new born babies. PKU may be treated by low- phenylalanine diet in addition to some other medications prescribed by the doctor.

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