PATHOLOGY

Detailed explanation-1: -Is PKU inherited? 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.

Detailed explanation-2: -When both parents are carriers of the faulty PKU gene, their child will be born with PKU if they receive one copy of the faulty gene from each parent. When both parents are carriers, the possibilities in each pregnancy are: 1 in 4 chance of having an affected child. 2 in 4 chance of having a child that is a carrier.

Detailed explanation-3: -Autosomal recessive inheritance pattern You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes. They have a 50% chance of having an unaffected child who also is a carrier.

Detailed explanation-4: -Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid.