Disorders of amino acid metabolism Quiz: Ace Your Exams

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A 3-day-old female neonate is under evaluation in the neonatal ICU following 2 episodes of generalized seizures. Since starting breastfeeding, the patient has been irritable and feeding poorly, and she has had multiple episodes of vomiting. She was born at 38 weeks gestation to a 22-year-old woman following an uncomplicated spontaneous vaginal delivery. She has been exclusively breastfed from birth. Temperature is 36.4°C (97.5°F), pulse is 145/min, and respiratory rate is 67/min. Physical examination reveals a somnolent and lethargic neonate. Abdominal examination is unremarkable. Neurological examination reveals diffuse hypotonia and somnolence with response to painful stimulation. Sepsis workup is negative. Laboratory evaluation reveals orotic aciduria. Accumulation of which of the following is responsible for this patient’s symptoms? 

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