Phenylalanine and Tyrosine Metabolism MCQ — NEET PG Practice Question | NEETPGAI
Phenylalanine and Tyrosine Metabolism
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flask-conical Biochemistry
A 3-day-old male neonate born to consanguineous parents presents with poor feeding, lethargy, and a distinctive musty or mousy odour on the breath and urine. Newborn screening shows elevated plasma phenylalanine (>20 mg/dL; normal <2 mg/dL) and elevated urinary phenylketones. Physical examination reveals fair skin and blonde hair. What is the most likely diagnosis?
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