Description
A rare inherited condition that causes an amino acid called phenylalanine to build up in the body.
Overview
Phenylketonuria (PKU) is a rare inherited condition that causes an amino acid called phenylalanine to build up in the body. Newborns are screened for PKU.
Symptoms
Untreated PKU can lead to brain damage, intellectual disability, behavioral symptoms, or nervous system problems that may include seizures.
Treatments
Treatment includes a strict diet that limits protein.
Last Updated: January 10th, 2024
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