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Questions and Answers
What was the result of the blood sample taken from the baby at home?
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?
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?
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?
What is the reference range for serum tyrosine in newborns?
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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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