Disorders of amino acid metabolism Quiz: Ace Your Exams
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A 4-day-old female neonate is under evaluation in the neonatal ICU following a seizure-like episode. Since starting breastfeeding, she has been irritable and feeding poorly, and she has had several episodes of vomiting. She was born at 29 weeks gestation to a 29-year-old woman following a caesarean delivery for prolonged labor. The patient has been exclusively breastfed since birth. Temperature is 36.4°C (97.5°F), pulse is 145/min, and respiratory rate is 67/min. On physical examination, the patient appears somnolent and lethargic. Skin turgor is delayed and eyes appear sunken. Abdominal examination is unremarkable. Neurological examination reveals diffuse hypotonia and somnolence without response to painful stimulation. Sepsis workup is negative. Laboratory evaluation reveals orotic aciduria and hyperammonemia. Serum arginine levels are within normal limits. Deficiency of which of the following enzymes is responsible for this patient’s symptoms?
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