PKU phenylketonuria

• What is the condition caused by a metabolic disorder that prevents the body from breaking down phenylalanine?

  Phenylketonuria (PKU)
• What is the effect of phenylketonuria (PKU) on the body?

  It prevents the breakdown of amino acids
• What genetic mutation is associated with phenylketonuria (PKU)?

  Mutation in both copies of the gene
• What are the common symptoms of phenylketonuria (PKU)?

  • Eczemas
  • Skin/hair discoloration
  • Smaller head size
  • Behavioral problems
  • Developmental delays
• What dietary approach is recommended for managing phenylketonuria (PKU)?

  Eating a special diet
• What supplements are often taken by individuals with PKU?

  Vitamins, minerals, and supplements
• What is the role of medication in managing PKU?

  To help break down phenylalanine
• How is phenylketonuria (PKU) diagnosed?

  Through blood tests after birth
• What is the purpose of genetic testing in PKU diagnosis?

  To identify levels of PKU in blood
• What tests are used to identify levels of PKU in blood?

  Blood tests, urine tests, and screening tests
• What is the significance of screening tests for PKU?

  To identify PKU levels in blood
• What is the outcome of untreated PKU?

  Severe intellectual disability and health issues
• How can early diagnosis of PKU affect treatment outcomes?

  It leads to better management and outcomes
• What is the relationship between genetic testing and PKU management?

  Genetic testing helps tailor dietary management