Phenylketonuria - causes, symptoms, diagnosis, treatment, pathology

Osmosis from Elsevier
31 Oct 201905:34

Summary

TLDRPhenylketonuria (PKU) is a rare genetic disorder caused by the buildup of phenylalanine, an essential amino acid, due to a deficiency in the enzyme phenylalanine hydroxylase. This condition can lead to severe neurological issues if untreated, including intellectual disability and seizures. Newborn screening is crucial for early detection, followed by a strict low-phenylalanine diet and specialized medical foods. Two FDA-approved treatments, Kuvan and Palynziq, can aid in managing PKU. Early intervention and individualized dietary plans are essential for improving outcomes and preventing complications associated with high phenylalanine levels.

Takeaways

  • 🧬 Phenylketonuria (PKU) is a rare metabolic disorder caused by high levels of the amino acid phenylalanine in the blood.
  • 🔬 PKU is an autosomal recessive genetic disorder affecting the enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine.
  • 👶 Newborns are routinely screened for PKU through a simple blood test taken 24 hours after birth.
  • ⚠️ Untreated PKU can lead to severe intellectual disability, psychiatric disorders, and seizures.
  • 🤰 Pregnant women with PKU must monitor their phenylalanine levels to reduce risks of Maternal PKU Syndrome in their babies.
  • 🧠 High levels of phenylalanine can interfere with the transport of other amino acids across the blood-brain barrier, affecting brain function.
  • 🥗 First-line treatment for PKU involves a low-phenylalanine diet that eliminates high-protein foods like meat, fish, and dairy.
  • 💊 Two FDA-approved treatments for PKU are Kuvan, which enhances enzyme activity, and Palynziq, an injectable enzyme that helps metabolize phenylalanine.
  • 🍏 Patients must customize their dietary intake of phenylalanine with the help of medical professionals based on individual needs.
  • 🔄 Early intervention with treatment can significantly improve outcomes for individuals with PKU.

Q & A

  • What is phenylketonuria (PKU)?

    -PKU is a rare metabolic disorder caused by the accumulation of phenylalanine, leading to severe brain disorders.

  • Why is phenylalanine essential, and how do we obtain it?

    -Phenylalanine is one of the essential amino acids necessary for life, and it must be obtained through protein-rich foods because our bodies cannot produce it.

  • What role does the enzyme phenylalanine hydroxylase play in the body?

    -Phenylalanine hydroxylase converts phenylalanine into tyrosine, which is necessary for producing important neurotransmitters.

  • How is PKU inherited?

    -PKU is an autosomal recessive genetic disorder, meaning a child must inherit two copies of the mutated gene to develop the disease.

  • What are some symptoms of untreated PKU?

    -Untreated PKU can result in severe intellectual disability, psychiatric disorders, and seizures.

  • What risks does a pregnant woman with PKU face?

    -Pregnant women with PKU need to manage their phenylalanine levels to reduce the risk of Maternal PKU Syndrome, which can cause heart defects and developmental disabilities in the baby.

  • How does elevated phenylalanine affect the brain?

    -High levels of phenylalanine disrupt the transport of other amino acids like tyrosine and tryptophan across the blood-brain barrier, leading to decreased levels of crucial neurotransmitters.

  • How is PKU typically diagnosed?

    -PKU is usually diagnosed through newborn screening, where a blood sample is taken to measure phenylalanine levels.

  • What is the first-line treatment for PKU?

    -The first-line treatment for PKU is a low-phenylalanine diet, which includes medical foods and restrictions on high-protein foods.

  • What FDA-approved treatments are available for PKU?

    -Two FDA-approved treatments for PKU are Kuvan, which enhances enzyme activity, and Palynziq, an injectable enzyme that helps metabolize phenylalanine.

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Ähnliche Tags
PKU AwarenessMetabolic DisorderGenetic ConditionNutrition TherapyNewborn ScreeningBrain HealthAmino AcidsHealthcareFDA ApprovedPatient Education
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