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 ph…
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