Phenylketonuria (NORD) Quiz: Ace Your Exams
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A 24-hour-old male neonate undergoes neonatal screening. He was born at 40 weeks gestation to a 32-year-old woman with Graves disease following an uncomplicated spontaneous vaginal delivery. Temperature is 36.4°C (97.5°F). Head circumference is significant for microcephaly. Motor examination is normal. Abdominal examination is unremarkable. Laboratory evaluation reveals a deficiency of phenylalanine hydroxylase. Which of the following metabolites are likely to be decreased in this patient?
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