Question:
A 15-year-old child with difficulty in exercise, affected oxidation of long-chain fatty acids, and biopsy of muscle shows fat vacuoles. Which of the following is the diagnosis?
A 15-year-old child with difficulty in exercise, affected oxidation of long-chain fatty acids, and biopsy of muscle shows fat vacuoles. Which of the following is the diagnosis?
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Carnitine deficiency prevents the proper oxidation of long-chain fatty acids, leading to the accumulation of fat in muscle tissue and exercise intolerance.
Updated On: Mar 24, 2025
- Carnitine deficiency
- FA synthase defect
- LPL defect
- LDL defect
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The Correct Option is A
Solution and Explanation
Carnitine deficiency impairs the transport of long-chain fatty acids into the mitochondria for oxidation, leading to the accumulation of fat vacuoles in muscle tissue. This can cause exercise intolerance, muscle weakness, and other symptoms of metabolic disturbance.
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