long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency is a metabolic disorder affecting fatty acid oxidation. This process is crucial for energy production, especially during prolonged starvation, when the body relies on breaking down stored fats.

In individuals with LCHAD deficiency, a specific enzyme involved in this breakdown is not functioning correctly. This can lead to serious health issues, including heart failure, dangerously low blood sugar (hypoglycemia), and failure of multiple organs. A unique and concerning aspect of LCHAD deficiency is its potential to cause liver disease in a pregnant mother who is a carrier of the condition, even if she doesn't have the deficiency herself. This is thought to be due to the combined metabolic stress of pregnancy and the fetus's lack of enzyme activity.1