what gene mutation causes phenylketonuria
Autosomal recessive inheritance pattern. A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine.A dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat.For a child to inherit PKU, both the mother and father must have and pass on the defective gene. This pattern of inheritance is called autosomal recessive. dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat. For a child to inherit PKU, both the mother and father must have and pass on the defective gene.