Phenylketonuria (PKU): Causes, Symptoms, And Treatment

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Phenylketonuria (PKU) is a rare inherited metabolic disorder that affects how the body processes phenylalanine, an amino acid found in protein-rich foods and artificial sweeteners. If left untreated, PKU can lead to serious health problems. — Exploring British Identity: Culture, History, And Modern Britain

What is Phenylketonuria (PKU)?

PKU occurs due to a defect in the PAH gene, which helps create the enzyme needed to break down phenylalanine. When this enzyme is deficient or missing, phenylalanine builds up in the bloodstream and brain, causing neurological damage. — LCF Game Event: How To Register

Causes of PKU

  • Genetic Mutation: PKU is caused by a mutation in the PAH gene. Both parents must carry the gene for their child to inherit the condition.
  • Inheritance Pattern: PKU follows an autosomal recessive inheritance pattern. This means that a child must inherit two copies of the defective gene (one from each parent) to develop the disorder.

Symptoms of PKU

PKU symptoms can vary from mild to severe, and they typically appear within the first few months of life.

Common symptoms include:

  • Intellectual Disability: High levels of phenylalanine can damage the brain, leading to cognitive impairment.
  • Seizures: Uncontrolled electrical activity in the brain may cause seizures.
  • Developmental Delay: Children with PKU may experience delays in reaching developmental milestones.
  • Behavioral Problems: Irritability, hyperactivity, and other behavioral issues can occur.
  • Musty Odor: A distinctive musty or mousy odor in the child's breath, skin, or urine.
  • Skin Rashes: Eczema or other skin rashes may be present.
  • Light Skin, Hair, and Eyes: Phenylalanine is involved in melanin production, so affected individuals may have lighter pigmentation.

Diagnosis of PKU

Most newborns are screened for PKU shortly after birth as part of routine newborn screening programs. A blood test is used to measure phenylalanine levels. If the initial screening is positive, further testing is needed to confirm the diagnosis. — The Rustic Oven: A Culinary Journey

Treatment Options

Early diagnosis and treatment are crucial to prevent the severe complications of PKU. The primary treatment strategies include:

  • Dietary Management: A strict low-phenylalanine diet is the cornerstone of PKU treatment. This involves limiting or avoiding high-protein foods such as meat, fish, eggs, dairy products, nuts, and legumes. Special formulas and modified food products are available to meet nutritional needs while minimizing phenylalanine intake.
  • Medication: Sapropterin (Kuvan) is a medication that can help lower phenylalanine levels in some individuals with PKU. It works by increasing the activity of the PAH enzyme. However, it is not effective for everyone with PKU.
  • Enzyme Substitution Therapy: Palynziq is an injectable enzyme substitution therapy that helps break down phenylalanine. It is approved for adults with PKU whose phenylalanine levels are not adequately controlled with diet alone.

Living with PKU

Managing PKU requires ongoing monitoring and adjustments to the treatment plan. Regular blood tests are necessary to track phenylalanine levels and ensure they remain within the target range. Consulting with a metabolic specialist and a registered dietitian is essential for developing and maintaining an effective PKU management plan. Support groups and online resources can also provide valuable information and emotional support for individuals and families affected by PKU.

Call to Action: If you suspect your child may have PKU, consult with your healthcare provider immediately for testing and guidance.