Gluconeogenesis- Case-based Multiple-Choice Questions- Set 1
1. A 4-month-old boy is being evaluated for seizures, psychomotor retardation, and hypotonia. Work-up reveals elevated serum levels of lactate, alanine, pyruvate, and ketoacids. Based on the clinical presentation, pyruvate carboxylase activity is measured using fibroblasts from a skin biopsy and is found to be markedly decreased. This enzyme is normally used to directly synthesize […]
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