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1048 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?

Aa-L-Iduronidase deficiency
BAcid maltase deficiency (a 1,4-glucosidase deficiency)
CCarnitine uptake deficiency
DLong-chain acyl CoA dehydrogenase (LCAD) deficiency
Biochemistry
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