Disorders of amino acid metabolism Quiz: Ace Your Exams
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A 6-month-old girl is brought to the emergency department with seizures. The episode lasted less than a minute and terminated without any interventions. Her parents have not noticed a change in stools, excessive crying, or a fever. Her birth was unremarkable; however, the parents state she has not been able to sit up or roll over on her own yet. The family immigrated from Nigeria 2 months ago. Her weight is less than the 5th percentile for her age. Temperature is 36.4°C (97.5°F), pulse is 145/min, and respiratory rate is 34/min. Head circumference is significant for microcephaly. Physical examination reveals eczema over the chest. Motor examination is normal. Abdominal examination is unremarkable. A genetic disorder is suspected. Laboratory evaluation reveals a deficiency of tetrahydrobiopterin. Which of the following amino acids is most likely essential in this patient given her condition?
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