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A 5-year-old mentally retarded girl presented with repeated convulsions and abnormal EEG finding

Anwaar
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2022-09-11
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A 5-year-old mentally retarded girl presented with repeated convulsions and abnormal EEG finding, On examination, She had a light Skin, small head, and exaggerated reflex.
Of the following, the MOST appropriate method to confirm the diagnosis is

  1. Guthrie test
  2. flow cytometry
  3. tandem mass spectrometry
  4. measurement of phenylketones in the urine
  5. measurement of plasma phenylalanine concentration
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Anwaar
2022-09-11
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(E). In infants with positive screening results, diagnosis should be confirmed by quantitative measurement of plasma phenylalanine concentration

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