A previously healthy 18 month old boy is brought to the emergency department for lethargy and a seizure after a viral gastroenteritis with poor oral intake. Laboratory studies show glucose 32 mg per dL, minimal serum ketones, elevated dicarboxylic acids in urine, and mild hyperammonemia. Which of the following enzyme deficiencies is the most likely cause?
- A)HMG CoA reductase
- B)Medium chain acyl CoA dehydrogenaseGABARITO
- C)Glucose 6 phosphate dehydrogenase
- D)Carnitine palmitoyltransferase I
- E)Pyruvate kinase
Explicação
This child has medium chain acyl CoA dehydrogenase deficiency. Impaired beta oxidation prevents formation of acetyl CoA and ketone bodies during fasting, leading to hypoketotic hypoglycemia, vomiting, lethargy, and elevated dicarboxylic acids from omega oxidat... Ver explicação completa e trilha adaptativa →