Oxidation diseases, more accurately referred to as fatty acid oxidation disorders (FAODs), are inborn metabolic errors disrupting how the body breaks down fats for energy.
Understanding Fatty Acid Oxidation Disorders
Fatty acid oxidation is a crucial process, especially when the body needs energy during fasting or prolonged exercise. FAODs interrupt this process, leading to various health complications.
The Core Problem
The underlying issue in FAODs involves defects in:
- Mitochondrial β-oxidation: This is the primary pathway for breaking down fatty acids within the mitochondria, the cell's energy powerhouses.
- Carnitine transport pathway: Carnitine is essential for transporting fatty acids into the mitochondria for oxidation. Defects here hinder fatty acid entry.
Consequences of Impaired Oxidation
When fatty acid oxidation is impaired, the body cannot efficiently use fats for energy. This can lead to:
- Energy Deficiency: Especially during times of stress, like illness or fasting.
- Accumulation of Fatty Acids: This buildup can be toxic to organs, such as the liver, heart, and muscles.
Examples of FAODs
While "oxidation disease" is not a specific named condition, it describes a group of disorders. Examples of specific FAODs include:
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Carnitine palmitoyltransferase I or II deficiency (CPT I or II)
Diagnosis and Management
FAODs are often diagnosed through newborn screening or clinical testing. Management typically involves:
- Dietary modifications: Avoiding prolonged fasting and consuming a diet tailored to the specific disorder.
- Carnitine supplementation: In some cases, carnitine supplementation can help improve fatty acid transport.
- Emergency protocols: Having a plan in place for managing metabolic crises.
