MEDizzy
MEDizzy
USMLE
Metabolic Disorder Part 1
A 5-yr-old girl mentally retarded girl presented with repeated convulsions and abnormal EEG finding. On examination, she had a light skin, small head, and exaggerated reflexes. Of the following, the MOST appropriate method to confirm the diagnosis is
Explanation
ExplanationIn infants with positive screening results, diagnosis should be confirmed by quantitative measurement of plasma phenylalanine concentration.
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