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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?

To prevent irreversible brain damage and mental retardation Signup and view all the answers

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

It counteracts the antagonists and allows bacterial growth if present in high levels in the blood sample 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?

Progressive mental retardation Signup and view all the answers

Which method is not affected by the presence of antibiotics?

Microfluorometric assay Signup and view all the answers

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

DNA analysis using cloned human PAH cDNA Signup and view all the answers

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

Complex formed of phenylalanine-ninhydrin-copper in the presence of dipeptide Signup and view all the answers

What is the purpose of the urine testing for phenylpyruvate?

Monitoring dietary therapy Signup and view all the answers

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

Quantitative measurement of phenylalanine Signup and view all the answers

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

TCA (trichloroacetic acid) Signup and view all the answers

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

Sample collection method Signup and view all the answers

What does the reagent strip test involve?

Reaction of ferric chloride with phenylpyruvic acid in urine Signup and view all the answers

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

Cloned human PAH cDNA Signup and view all the answers

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

Extraction with trichloroacetic acid (TCA) Signup and view all the answers