Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder that leads to the buildup of the amino acid phenylalanine in the body. This buildup can lead to serious health problems, including intellectual disability, seizures, and behavioral problems.
Impact of Gene Variants
PKU is caused by a mutation in the phenylalanine hydroxylase (PAH) gene. This gene is responsible for producing an enzyme that metabolizes phenylalanine. When this enzyme is deficient, phenylalanine accumulates in the body, leading to various health issues.
Ways to Recognize Problems
Symptoms of PKU can range from mild to severe and may include intellectual disability, delayed development, behavioral problems, seizures, and a musty odor in the breath, skin, or urine. Early diagnosis and treatment can help prevent these symptoms.
Ways to Improve
Treatment for PKU primarily involves a lifelong diet that limits phenylalanine, which is found mostly in foods that contain protein. Additionally, individuals with PKU may need to take a special nutritional supplement to ensure they get enough essential protein and nutrients.
Did you know
PKU affects about 1 in 10,000 to 15,000 newborns in the United States.The prevalence of PKU varies widely among regions. On average, about 1 in 15,000 births have PKU, but it can be as high as 1 in 5,000 births in some regions.
