fatty acid oxidation disorder

Fatty acid oxidation disorders are metabolic conditions where the body cannot properly break down fats for energy. This is particularly critical during prolonged starvation or fasting, as fats stored in adipose tissue are essential for energy production when glycogen stores are depleted. The process of fatty acid beta-oxidation, which occurs in liver cell mitochondria, requires a carrier molecule called carnitine.

Disorders can arise from issues with carnitine transport or with the enzymes directly involved in the beta-oxidation cycle. Symptoms often include hypoglycemia, liver disease, decreased muscle tone, and heart failure. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one such disorder, which can be managed by avoiding excessive fat intake and timely glucose administration during metabolic stress. Other disorders, like long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, can present with more severe multi-organ system failure.12