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Biochemistry
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?
a-L-Iduronidase deficiency
Acid maltase deficiency (a 1,4-glucosidase deficiency)
Carnitine uptake deficiency
Long-chain acyl CoA dehydrogenase (LCAD) deficiency
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