Phenylketonuria Essay

Description: Phenylketonuria, also known as PKU, is a genetic disorder caused by the mutation of the PAH gene. The PAH gene is responsible for creating the enzyme phenylalanine hydroxylase. This enzyme breaks down the amino acid phenylalanine into tyrosine for the body. This mutation causes the PAH gene to not break down the phenylalanine and because so, dangerous and toxic levels of phenylalanine can build up in the blood, brain, and other organs and tissues. Without being able to digest phenylalanine, the amino acid will build up in the body and cause serious deficits. Phenylalanine is found in all proteins so people with this disorder need to follow a strict diet for their entire life. (Boston Children’s Hospital, 2012). Another milder form of the disorder is called …show more content…
It can take up to a few months for symptoms of high phenylalanine levels to show, but it is essential to start as soon as possible. Untreated PKU can lead to many psychological and mental deficits, such as seizures, development problems, intellectual disabilities, behavior and emotion problems, as well as many physical disabilities. Physical disabilities of untreated PKU include weak bones, eczema, seizures, fair skin and light blue eyes, microcephaly, hyperactivity, and a musty odor in their breath, skin, or urine. Women with PKU who are pregnant also have a chance of being affected by maternal PKU. Not strictly monitoring the PKU diet during pregnancy can cause the high phenylalanine levels to harm the fetus and potentially cause a miscarriage. Children that are born to mothers who didn’t follow the proper diet before and after pregnancy can have many birth complications. These can include a low birth weight and heart defects. Later on in life they can also suffer from delayed development and behavioral problems. (Mayo Clinic,