Disorders of amino acid metabolism Quiz: Ace Your Exams
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A 2-week-old female neonate is under evaluation in the neonatal ICU for an episode of a seizure. Since starting breastfeeding, she has been irritable, has been feeding poorly, and has had several episodes of vomiting. She was born at 41 weeks of gestation to a 25-year-old woman following an uncomplicated spontaneous vaginal delivery. She has been exclusively breastfed from birth. Temperature is 36.4°C (97.5°F), respiratory rate is 67/min, and pulse is 155/min. Physical examination reveals a somnolent and lethargic infant. Abdominal examination is unremarkable. Neurological examination reveals diffuse hypotonia and somnolence with response to painful stimulation. Laboratory evaluation reveals wide anion gap metabolic acidosis and elevated levels of propionyl CoA in urine. Which of the following vitamins are required for the function of the enzyme that is most likely deficient in this patient?
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