PKU (phenylketonuria) is a genetic disorder that can lead to brain damage in babies. It is an autosomal recessive disorder, that is found in babies. It is found on chromosome 12. PKU happens when the PAH protein is mutated, and becomes unable to break down the amino acid phenylalanine.
To the left is a picture of Chromosome 12, and the PAH gene is in red.
Doctors treat babies for PKU by testing every newborn baby in the US. They do this, because the disease is so common, and it has to be treated for very early in the babies life, that it is the only reasonable solution.
People with PKU treat it by not eating any protien, because almost every protein has phenylalanine, and if the person who has it eats phenylalanine, it doesn't get broken down properly.
PKU is fairly common in the United States, about one in every 15,000 babies in the US is born with PKU.
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