How Is Pku Inherited

Inheritance. 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. It’s possible for a parent to be a carrier — to have the defective gene that causes PKU, but not have the disease.

How is PKU inherited explain?

PKU is inherited from a person’s parents. The disorder is passed down in a recessive pattern, which means that for a child to develop PKU, both parents have to contribute a mutated version of the PAH gene. If both parents have PKU, their child will have PKU as well.

Is PKU chromosomal or genetic?

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.