Disorders of carbohydrate metabolism Quiz: Ace Your Exams

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A 6-month-old male infant is brought to the pediatrician for evaluation of poor weight gain. The patient was born at 38-weeks gestational age via an uncomplicated vaginal delivery. According to his parents, the patient has had poor feeding, a weak cry, and appears more frail than other children of a similar age. The patient is at the 15th percentile for length and 5th percentile for weight. Temperature is 37.0°C (98.6°F), blood pressure is 95/50 mmHg, and pulse is 102/min. Widespread muscle hypotonia is noted on physical examination. Laboratory testing reveals elevated serum lactate and alanine levels. Further genetic work-up reveals a mutation in the PDHA1 gene. Which of the following best describes the normal function of the enzyme likely deficient in this patient’s condition?  

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