An infant is brought to the clinic with failure to thrive, vomiting, and lethargy after consuming milk-based formula. Blood tests reveal hypoglycemia and elevated levels of fatty acids in the blood. What enzyme deficiency is most likely present?
- A. Acyl-CoA dehydrogenase
- B. Carnitine palmitoyltransferase I
- C. Medium-chain acyl-CoA dehydrogenase (MCAD) ✓
- D. Glucose-6-phosphatase
Fatty acid metabolism is essential for energy production, especially during fasting or when carbohydrate intake is low. In infants, milk-based formulas provide significant amounts of fat, which should be metabolized efficiently to prevent hypoglycemia and other metabolic disturbances.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inherited disorders of fatty acid oxidation.
MCAD deficiency leads to an inability to oxidize medium-chain fatty acids, resulting in hypoglycemia and accumulation of fatty acids during fasting or illness.
