Understanding Phenylketonuria (PKU)

What is PKU?

Phenylketonuria (PKU) is an inherited metabolic disorder that affects the body's ability to process phenylalanine, an amino acid found in many foods containing protein.

Causes

• Mutations in the PAH gene
• Inherited in an autosomal recessive pattern
• Both parents must carry the defective gene

Symptoms

If untreated, PKU can cause:

• Intellectual disabilities
• Seizures
• Behavioral problems
• Mental health issues
• Light skin and hair
• Musty body odor

Diagnosis

Newborn Screening

• Performed 24-48 hours after birth
• Blood test measuring phenylalanine levels
• Follow-up testing if screening is positive

Treatment

Dietary Management

1. Low-phenylalanine diet
2. Special medical formula
3. Regular blood monitoring

Foods to Avoid

• High-protein foods
• Meat and fish
• Dairy products
• Nuts and legumes
• Artificial sweetener aspartame

Living with PKU

Monitoring Requirements

• Regular blood tests
• Dietary tracking
• Medical check-ups

Special Considerations

• Pregnancy requires strict control
• Lifelong diet management
• Regular consultation with metabolic specialists

Support and Resources

• PKU support groups
• Genetic counseling
• Nutritionist guidance
• Medical team coordination