Tag: Pah enzyme

Approximately 1 in 25,000 newborns in the United States are screened for phenylketonuria (PKU), a genetic disorder that prevents the body from properly processing the amino acid phenylalanine. Understanding the normal metabolic pathway is crucial for grasping why management strategies are so important for those with this condition.

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.