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Questions and Answers
What is the purpose of the Guthrie bacterial inhibition assay described in the text?
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?
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?
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?
Why is it crucial to detect phenylketonuria at birth?
What is the role of phenylalanine in the Guthrie bacterial inhibition assay?
What is the role of phenylalanine in the Guthrie bacterial inhibition assay?
What is the consequence of brain function deterioration starting in the second or third week of life in infants with untreated phenylketonuria?
What is the consequence of brain function deterioration starting in the second or third week of life in infants with untreated phenylketonuria?
Which method is not affected by the presence of antibiotics?
Which method is not affected by the presence of antibiotics?
What is used for prenatal diagnosis and detection of carrier status in families with PKU?
What is used for prenatal diagnosis and detection of carrier status in families with PKU?
What does the fluorescence measurement in the microfluorometric assay rely on?
What does the fluorescence measurement in the microfluorometric assay rely on?
What is the purpose of the urine testing for phenylpyruvate?
What is the purpose of the urine testing for phenylpyruvate?
What is the role of HPLC or tandem mass spectrometry (MS/MS) in quantitative methods?
What is the role of HPLC or tandem mass spectrometry (MS/MS) in quantitative methods?
What does the dried blood spot test require as pretreatment of the filter paper specimen?
What does the dried blood spot test require as pretreatment of the filter paper specimen?
How does the direct measurement of phenylalanine in dried blood spot differ from urine testing for phenylpyruvate?
How does the direct measurement of phenylalanine in dried blood spot differ from urine testing for phenylpyruvate?
What does the reagent strip test involve?
What does the reagent strip test involve?
What is used for analyzing numerous restriction fragment length polymorphism in the PAH gene?
What is used for analyzing numerous restriction fragment length polymorphism in the PAH gene?
What is required for quantitative methods like HPLC or tandem mass spectrometry (MS/MS)?
What is required for quantitative methods like HPLC or tandem mass spectrometry (MS/MS)?