What Is PKU?
PKU is a birth defect that causes an amino acid called phenylalanine to build up in a person’s body. If left untreated, it can lead to brain damage, intellectual disabilities, behavioral symptoms or seizures.
A person with PKU may have a musty odor because of the extra protein, lighter skin and hair than unaffected family members and also skin disorders such as eczema.
Cause Of The Disorder
PKU is caused by a mutation in the gene that helps make an enzyme called PAH. This enzyme converts an amino acid in other substances.
How Is This Disorder Inherited?
PKU is inherited in an autosomal recessive pattern. A person with PKU has two copies of the gene that is altered. It is found on chromosome 12.
How Is PKU Treated?
PKU is treated by a strict diet with little to no protein.
How Is It Diagnosed?
If someone shows symptoms of PKU, they can get a blood test to see if there is a certain enzyme.
How Common Is PKU?
PKU is rare with only about 20,000 US cases per year.