Amino Acidurias — PKU, Alkaptonuria, Maple Syrup MCQ — NEET PG Practice Question | NEETPGAI
Amino Acidurias — PKU, Alkaptonuria, Maple Syrup
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flask-conical Biochemistry
A 6-month-old infant from rural Maharashtra is brought to the pediatric clinic with developmental delay and a musty odor on the skin. Newborn screening was not performed. Serum phenylalanine is 1200 μmol/L (normal <120 μmol/L). The parents are consanguineous. Which of the following statements about phenylketonuria (PKU) is NOT true?
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