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Pediatric Rounds Review Questions
An 18-Month-Old Child with a Previously Undiagnosed Fatty Acid Oxidation Disorder

Answer 3

  1. Hypoketotic hypoglycemia with normal to moderately elevated ammonia level. The hallmark of fatty acid oxidation disorders is hypoketotic hypoglycemia. Ammonia levels are usually normal to only moderately elevated. Organic acidurias are associated with high anion gap ketoacidosis. There is no single group of disorders associated with hypoketotic hypoglycemia and a markedly elevated ammonia level. Urea cycle defects are associated with a markedly elevated ammonia level and normoglycemia.

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