What condition is characterized by a deficiency of long-chain acyl-CoA dehydrogenase?

The condition characterized by a deficiency of long-chain acyl-CoA dehydrogenase is indeed a fatty acid oxidation defect. Long-chain acyl-CoA dehydrogenase is an enzyme that plays a crucial role in the mitochondrial beta-oxidation pathway, which is responsible for the breakdown of long-chain fatty acids into acetyl-CoA units that can be further metabolized for energy.

When there is a deficiency of this enzyme, the body is unable to effectively oxidize long-chain fatty acids, leading to an accumulation of these fatty acids and their derivatives. This can result in hypoketotic hypoglycemia, muscle weakness, cardiomyopathy, and other symptoms related to energy deficiency.

Understanding this condition is essential for recognizing the pathophysiology of fatty acid oxidation disorders, which can present with acute metabolic crises, particularly during fasting or illness when the body relies more on fatty acid metabolism for energy production. Early diagnosis and management are critical to preventing complications associated with this metabolic defect.