Answer;
-Blond, blue-eyed, fair-skinned child with eczema
Explanation;
Phenylketonuria (PKU) is an inherited, autosomal recessive disorder, which affects the way proteins are metabolised. It is caused by a defective enzyme, which should convert the amino acid phenylalanine into tyrosine.
-It is results in a build up of phenylalanine, a state called hyperphenylalaninaemia which affects normal growth and development, especially of brain tissue.
-Infants with PKU are usually blond, blue-eyed, and fair, and often have eczema. The other physical assessment findings are not typically found in children with PKU.
