What is PKU?
PKU is a genetic disorder that causes a build up of the amino acid Phenylalanine in the body. It is caused by a defect in the gene (PAH) that helps create the enzyme needed to break down phenylalanine. This autosomal gene can be found on chromosome 12.
Treatments for PKU
The treatments used for PKU are certain diets and sapropterin dihydrochloride. Baby's must take a new type of formula which contains a different protein for the newborns. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU.
Food that People with PKU Avoid
- Intellectual disability
- Delayed development
- Behavioral, emotional and social problems
- Neurological problems that may include seizures
- Poor bone strength
- Skin rashes
- A musty odor in the child's breath, skin or urine, caused by too much phenylalanine in the body
- Fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone
- Abnormally small head