Phenylketonuria (PKU)
Description
A rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without this enzyme, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame.
Common Symptoms
- If untreated, can lead to: irreversible intellectual disability, seizures, behavioral problems, and psychiatric disorders
- A musty odor in the breath, skin or urine
- Eczema
Common Causes
- An autosomal recessive genetic mutation in the PAH gene.
Treatment Information
A lifelong diet with very limited intake of protein, because virtually all proteins contain phenylalanine. Newborn screening is crucial for early detection and prevention of severe symptoms.
Important: This information is for educational purposes only.
Always consult with a qualified healthcare professional for proper diagnosis and treatment.