Phenylketonuria (PKU) is a disorder that causes an amino acid called phenylalanine to build up in a person’s body. PKU is caused by a defect in the gene, the PAH gene, that helps to create the enzyme hydroxlase that is responsible for breaking down phenylalanine. Without this important enzyme, a person will build up a dangerously high level of phenylalanine when they eat foods that are high in protein. Babies in the United States are screened for PKU soon after birth.
Newborns with PKU initially don’t show any symptoms. Symptoms include: intellectual disability, delayed development, behavioral, emotional and social problems. Symptoms also include neurological problems that may include seizures, psychiatric disorders, poor bone strength, hyperactivity, skin rashes, fair skin and blue eyes, and an abnormally small head. PKU symptoms may be mild or severe, the most severe form of the disorder is called classic PKU. A woman with PKU who becomes pregnant is at risk for another form of the condition called maternal PKU. As stated earlier, babies rarely inherit PKU although, they can have serious consequencesif the level of phenylalanine is high in the mothers blood. Complications consist of: Intellectual disability, low birth weight, delayed development, …show more content…
This condition is uncommon in the U.S., affecting only around 1 in 10,000 to 15,000 newborns each year. If PKU isn’t diagnosed at birth and the treatment isn’t started quickly, this disorder can cause irreversible brain damage and behavioral problems. To test for PKU a doctor uses a lancet to take a few drops of blood from your baby’s heel. If you have this disease you’d have to be on a special diet. These are the foods you need to avoid: eggs, cheese, nuts, milk, beans, chicken, beef, pork, and fish. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of
Newborns with PKU initially don’t show any symptoms. Symptoms include: intellectual disability, delayed development, behavioral, emotional and social problems. Symptoms also include neurological problems that may include seizures, psychiatric disorders, poor bone strength, hyperactivity, skin rashes, fair skin and blue eyes, and an abnormally small head. PKU symptoms may be mild or severe, the most severe form of the disorder is called classic PKU. A woman with PKU who becomes pregnant is at risk for another form of the condition called maternal PKU. As stated earlier, babies rarely inherit PKU although, they can have serious consequencesif the level of phenylalanine is high in the mothers blood. Complications consist of: Intellectual disability, low birth weight, delayed development, …show more content…
This condition is uncommon in the U.S., affecting only around 1 in 10,000 to 15,000 newborns each year. If PKU isn’t diagnosed at birth and the treatment isn’t started quickly, this disorder can cause irreversible brain damage and behavioral problems. To test for PKU a doctor uses a lancet to take a few drops of blood from your baby’s heel. If you have this disease you’d have to be on a special diet. These are the foods you need to avoid: eggs, cheese, nuts, milk, beans, chicken, beef, pork, and fish. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of