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Phenylketonuria Screening Quiz

Created by

@CheeryAutomatism

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Questions and Answers

What was the result of the blood sample taken from the baby at home?

High level of tyrosine

Low level of phenylalanine

Normal result

Presence of phenylketones (correct)

What was the baby's serum phenylalanine concentration when tested at the paediatric department?

0.1 mmol/L

1.0 mmol/L

2.0 mmol/L (correct)

0.05 mmol/L

What was the result of the baby's urine test?

Positive for phenylketones (phenylpyruvate) (correct)

High level of tyrosine

Negative for any abnormalities

Presence of glucose

What is the reference range for serum tyrosine in newborns?

<p>0.05 to 0.1 mmol/L</p> Signup and view all the answers

Study Notes

Blood Sample and Test Results

The blood sample taken from the baby at home revealed a high concentration of phenylalanine.
The baby's serum phenylalanine concentration was 1200 μmol/L when tested at the paediatric department, indicating a high level of phenylalanine.
The baby's urine test result was positive for phenylketones, indicating the presence of excess phenylalanine.

Reference Range for Serum Tyrosine

The reference range for serum tyrosine in newborns is 20-120 μmol/L.

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Description

Test your knowledge about phenylketonuria (PKU) screening for newborn babies. This quiz covers the procedure, implications, and follow-up steps after a positive screening result.