Mode of Inheritance/Chromosomal Event

PKU is a autosomal recessive genetic disorder. That means that the defective gene must be given to the child by both parents.

PKU is caused by a mutation of the gene that produces the enzyme PAH. That gene is located at 12q22-q24

PKU affects one in every 12,000-15,000 babies born in the U.S

In the general population the carrier frequency for PKU is about 1/50