Tuesday, May 5, 2009

Phenylketonuria

Phenylketonuria (commonly known as PKU) was discovered in 1934 by Asbjorn Folling. PKU is usually found in newborns. It is a genetic disease. If not treated, PKU can lead to brain damage very soon after the birth of the infant. PKU is caused when there is a excess amount of protien in the baby's body.


PKU has many symptoms. The infant can have an intellectual disability, seizures, delayed development, behavioral problems, psychiatric disorders, musty or mouse-like odor, eczema and lighter hair and skin color the unaffected family. However, PKU can be treated. A reduced-protein diet and phenylalanine-free formula (which is should be fed 7-10 days after the birth of the baby). In the picture above, you can see all the different kinds of foods good to eat if one has PKU. The medicine "Kuvan" is also prescribed in some cases.

PKU is common in about one in ten thousand people to about one in fifteen thousand people. Even though how common the disease is in people varies from place to place, it is mostly common in Whites and Asians. Very often, PKU is diagnosed in newborns.
In the end, there are many treatments for PKU. Since this is a genetic disease, we can hope that one day, it will die out. Personally, learning about PKU made me sad because small and innocent infants are faced with this.
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