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Science for Nursing and Midwifery - Section 1

Phenylketonuria, also known as PKU, is a rare hereditary condition that causes an amino acid phenylalanine to build up in the human body (NIH, 2020). The PKU is caused by a gene defect which helps to make phenylalanine hydroxylase (PAH) enzyme which is needed to break down phenylalanine into tyrosine. When this enzyme is absent, our body cannot break down the phenylalanine which further leads to phenylalanine accumulation in the body. Since the disorder is inherited, and to inherit this condition, both parents must pass on to their child a defective gene coding for phenylalanine hydroxylase enzyme. The child will show no symptoms of the condition when only one of the parent pass on an altered gene but will only be a gene carrier for the defected gene (Blau, 2016).

If an individual with PKU eats protein-containing foods containing phenylalanine or consumes aspartame (an artificial sweetener containing phenylalanine),....