for a cause | PKU awareness
for a cause | PKU awareness
PKU, or Phenylketonuria, is a rare genetic disorder that affects the body’s ability to break down the amino acid phenylalanine. This amino acid is found in most foods that contain protein, such as meat, eggs, nuts, and milk. In people with PKU, the body cannot convert phenylalanine into other substances the body needs, so it builds up in the blood and tissues.
PKU is caused by a mutation in the gene that helps make an enzyme called phenylalanine hydroxylase, or PAH. This enzyme is necessary to convert phenylalanine into other substances the body needs. When this gene is defective, the body cannot break down phenylalanine, leading to a buildup of this amino acid in the blood and tissues.
If left untreated, PKU can cause intellectual and developmental disabilities, as well as other health problems. However, with early diagnosis and treatment, people with PKU can lead normal lives. Treatment typically involves a strict diet that is low in phenylalanine and high in other amino acids, as well as supplements to help the body use the amino acids it needs.
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