Phenylketonuria (NORD) Quiz: Ace Your Exams

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A 1-year-old girl is brought to the clinic for evaluation of developmental delay. The parent states that she occasionally notices a “musty smell” to the patient’s urine when changing her diaper. The pregnancy and birth were unremarkable; however, the patient has not yet been able to sit up or walk on her own. She has not yet begun to say words, although she occasionally babbles. The family immigrated from Croatia 2 months ago, where the mother delivered the baby at home. The patient’s weight is less than the 5th percentile for her age. Head circumference is at the 10th percentile for her age. Temperature is 36.4°C (97.5°F), pulse is 145/min, and respiratory rate is 34/min. Physical examination reveals eczema and hypopigmentation over the chest and arms. Motor examination is normal. Abdominal examination is unremarkable. The physician suspects a genetic disorder. This patient’s condition is caused by deficiency of which of the following enzymes? 

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