Phenylketonuria Diagnosis: Defective Process
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Questions and Answers

What is the likely reason why the newborn was not diagnosed with Phenylketonuria earlier?

  • The doctor failed to perform the necessary tests
  • The disease is rare and hard to diagnose
  • The parents did not report any symptoms
  • The baby was a home birth and did not undergo genetic testing (correct)

What is the main consequence of the defective process leading to Phenylketonuria?

  • Accumulation of tyrosine
  • Accumulation of methionine
  • Accumulation of branched chain amino acids
  • Accumulation of phenylalanine (correct)

Which of the following is NOT a direct result of the defective process leading to Phenylketonuria?

  • Tyrosine degradation
  • Phenylalanine degradation
  • Methionine degradation
  • Urea synthesis (correct)

What is the primary symptom presented by the newborn in this scenario?

<p>Neurological issues (B)</p> Signup and view all the answers

Which of the following is the most likely cause of the newborn's neurological issues?

<p>Accumulation of phenylalanine (A)</p> Signup and view all the answers

What is the primary function of insulin?

<p>To facilitate glucose uptake in cells (C)</p> Signup and view all the answers

What is the result of insulin receptor mediated signaling?

<p>Increased glucose uptake in muscle cells (D)</p> Signup and view all the answers

What is a characteristic of insulin resistance?

<p>Decreased glucose uptake in muscle cells (C)</p> Signup and view all the answers

What is a major component of metabolic syndrome?

<p>Hypertension (D)</p> Signup and view all the answers

What is the purpose of treating metabolic syndrome?

<p>To reduce the risk of cardiovascular disease (B)</p> Signup and view all the answers

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