What is Phenylalanine in Phenylketonuria Patients?
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4 min read
According to the National Institutes of Health, over 900 different mutations have been identified in the PAH gene, which causes phenylketonuria (PKU) by limiting the body's ability to process the amino acid phenylalanine. In phenylketonuria patients, phenylalanine from food accumulates to toxic levels, posing a significant risk to the brain.
