Alternative Names & Classifications:
Primary Systemic Carnitine Deficiency (CLINICAL)
Description
Carnitine is an amino acid derivative absolutely essential for transporting long-chain fatty acids across the inner mitochondrial membrane, the critical energy-producing centers of the cell. While primary deficiency is a genetic transport defect, severe secondary deficiency can occur from chronic hemodialysis or profound malnutrition. The inability to metabolize fat leaves organs that rely heavily on fatty acid oxidation, like the heart and skeletal muscles, severely starved of energy.