Phenylketonuria (PKU)

A rare inherited condition that causes an amino acid called phenylalanine to build up in the body.

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.