The fraternal twin sisters are presenting with episodes of fasting hypoglycemia, hypoketonemia, and muscle weakness occurring only during periods of calorific deprivation. One twin dies at 5 months of age. The surviving twin develops a cardiomyopathy, which is diagnosed at 3 years of age. Carnitine esters are elevated in muscle tissue and in serum. Which of the following is the most likely diagnosis?
The fraternal twin sisters are presenting with episodes of fasting hypoglycemia, hypoketonemia, and muscle weakness occurring only during periods of calorific deprivation. One twin dies at 5 months of age. The surviving twin develops a cardiomyopathy, which is diagnosed at 3 years of age. Carnitine esters are elevated in muscle tissue and in serum. Which of the following is the most likely diagnosis?
💡 Explanation
The fraternal twin sisters are presenting with episodes of fasting hypoglycemia, hypoketonemia, and muscle weakness occurring only during periods of calorific deprivation. One twin dies at 5 months of age. The surviving twin develops a cardiomyopathy, which is diagnosed at 3 years of age. Carnitine esters are elevated in muscle tissue and in serum. Which of the following is the most likely diagnosis?
✓ Correct Answer: D. Long-chain acyl CoA dehydrogenase (LCAD) deficiency
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