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5:20
YouTube
National Organization for Rare Disorders (NORD)
Understanding Phenylketonuria (PKU): Diagnosis, Treatment, and Life with PKU
Phenylketonuria (PKU) is a rare metabolic disorder detected through newborn screening, caused by a deficiency of the PAH enzyme, which leads to toxic levels of phenylalanine in the brain. Without early treatment, PKU can cause severe intellectual disability, but a strict phenylalanine-restricted diet can help prevent complications. This video ...
2.3K views
Mar 24, 2025
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