A 6-year-old boy with progressive muscle weakness is found to have a systemic defect in the production of carnitine. Therefore, this child has a limited ability to produce ATP in skeletal muscle because of a defect in the degradation of long-chain fatty acids via the b-oxidation pathway. Which of the following is the most likely result of this defect in muscle?

Question

Quizplus · Accepted Answer

The defect in carnitine production impairs the transport of long-chain fatty acids into the mitochondria for β-oxidation, leading to an accumulation of triglycerides in muscle tissue. When cells cannot effectively oxidize fatty acid, or are in need of storage fat, the fats are diverted into triglyceride synthesis. In an individual with a defect in carnitine synthesis, or a dietary carnitine deficiency, fatty acid oxidation will be impaired resulting in the diversion of the fats into triglycerides.

A 6-Year-Old Boy with Progressive Muscle Weakness Is Found to Have