Phenylketonuria (PKU) Quiz

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Questions and Answers

What is the purpose of the Guthrie bacterial inhibition assay described in the text?

  • To measure the levels of tyrosine and phenylalanine in the blood
  • To screen for phenylketonuria in newborns (correct)
  • To determine the effectiveness of antibiotics in treating phenylketonuria
  • To detect the presence of Bacillus subtilis in the blood

What is the significance of maintaining an infant on a diet containing very low level of phenylalanine and high levels of tyrosine?

  • It ensures normal enzyme and amino acid levels in the infant
  • It helps in the growth of Bacillus subtilis in the Guthrie bacterial inhibition assay
  • It prevents brain damage and seizures in infants (correct)
  • It aids in the growth and development of the infant's brain

What is the consequence if phenylketonuria is left untreated?

  • Brain damage and progressive mental retardation (correct)
  • Enhanced brain function in children
  • Increased production of tyrosine in the body
  • Delayed growth and development in infants

Why is it crucial to detect phenylketonuria at birth?

<p>To prevent irreversible brain damage and mental retardation (B)</p> Signup and view all the answers

What is the role of phenylalanine in the Guthrie bacterial inhibition assay?

<p>It counteracts the antagonists and allows bacterial growth if present in high levels in the blood sample (B)</p> Signup and view all the answers

What is the consequence of brain function deterioration starting in the second or third week of life in infants with untreated phenylketonuria?

<p>Progressive mental retardation (B)</p> Signup and view all the answers

Which method is not affected by the presence of antibiotics?

<p>Microfluorometric assay (C)</p> Signup and view all the answers

What is used for prenatal diagnosis and detection of carrier status in families with PKU?

<p>DNA analysis using cloned human PAH cDNA (C)</p> Signup and view all the answers

What does the fluorescence measurement in the microfluorometric assay rely on?

<p>Complex formed of phenylalanine-ninhydrin-copper in the presence of dipeptide (C)</p> Signup and view all the answers

What is the purpose of the urine testing for phenylpyruvate?

<p>Monitoring dietary therapy (D)</p> Signup and view all the answers

What is the role of HPLC or tandem mass spectrometry (MS/MS) in quantitative methods?

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

What does the dried blood spot test require as pretreatment of the filter paper specimen?

<p>TCA (trichloroacetic acid) (D)</p> Signup and view all the answers

How does the direct measurement of phenylalanine in dried blood spot differ from urine testing for phenylpyruvate?

<p>Sample collection method (A)</p> Signup and view all the answers

What does the reagent strip test involve?

<p>Reaction of ferric chloride with phenylpyruvic acid in urine (D)</p> Signup and view all the answers

What is used for analyzing numerous restriction fragment length polymorphism in the PAH gene?

<p>Cloned human PAH cDNA (D)</p> Signup and view all the answers

What is required for quantitative methods like HPLC or tandem mass spectrometry (MS/MS)?

<p>Extraction with trichloroacetic acid (TCA) (C)</p> Signup and view all the answers

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